Is DNAAF5 p.Pro110Ser (c.328C>T) pathogenic?

DNAAF5 p.Pro110Ser (c.328C>T) is classified Uncertain significance in DNAAF5 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-04-15). AlphaMissense: likely pathogenic (0.6427); No allele count reported in gnomAD v4.1 (AN 1,095,324); Associated with primary ciliary dyskinesia.

What condition is associated with DNAAF5 p.Pro110Ser (c.328C>T)?

DNAAF5 p.Pro110Ser (c.328C>T) is associated with primary ciliary dyskinesia (ClinVar).

How common is DNAAF5 p.Pro110Ser (c.328C>T) in the general population?

DNAAF5 p.Pro110Ser (c.328C>T) is no allele count reported in gnomAD v4.1 (AN 1,095,324) (gnomAD).

How is Primary ciliary dyskinesia inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

What do computational predictors say about DNAAF5 p.Pro110Ser (c.328C>T)?

AlphaMissense predicts likely pathogenic (score 0.6427) — an in-silico prediction, not a clinical call.

DNAAF5 p.Pro110Ser

c.328C>T · rs2484003187 · VCV2099478

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6427 · ACMG-weighted

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,095,324)

Missense predictors

2/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

primary ciliary dyskinesia

Computational evidence

Protein change
AlphaMissense	0.6427	likely pathogenic
REVEL	0.222	benign-leaning
SaProt	LLR -10.66	damaging
⇒ AlphaMissense and SaProt call this damaging; REVEL does not.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 4.1	GERP -0.25, phastCons 1
Regional constraint	o/e 1.08	unconstrained · MANE · 59 kb · p 0.0084 · regional, not allelic
Overall
CADD	23.3	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,095,324). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DNAAF5
Protein: p.Pro110Ser
Coding: c.328C>T
MANE Select: NM_001164760 · reported on NM_017802
dbSNP: rs2484003187
Type: single nucleotide variant
Location: chr7:727048 (GRCh38)

Full DNAAF5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

primary ciliary dyskinesia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Primary ciliary dyskinesia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Neonatal
Prevalence: 1-5 / 10 000 (Pakistan)

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/dnaaf5-p-pro110ser (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown