Is CFAP210 p.Glu6Lys (c.16G>A) pathogenic?

CFAP210 p.Glu6Lys (c.16G>A) is classified Uncertain significance in CFAP210 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-08). Absent from gnomAD v4.1.

How common is CFAP210 p.Glu6Lys (c.16G>A) in the general population?

CFAP210 p.Glu6Lys (c.16G>A) is absent from gnomAD v4.1 (gnomAD).

CFAP210 p.Glu6Lys

c.16G>A · VCV4652779

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.014	strongly benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.36	GERP -1.1, phastCons 0.009
Regional constraint	o/e 0.95	unconstrained · MANE · 48 kb · p 0.24 · regional, not allelic
Overall
CADD	11.81	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: CFAP210
Protein: p.Glu6Lys
Coding: c.16G>A
MANE Select: NM_001085447
Type: single nucleotide variant
Location: chr2:169694312 (GRCh38)
Structure: AlphaFold pLDDT 81.20 · 2 PDB

Full CFAP210 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

CFAP210 p.Ala196Thr Uncertain significance ★ same type
CFAP210 p.Ala349Gly Uncertain significance ★ same type
CFAP210 p.Ala372Gly Uncertain significance ★ same type
CFAP210 p.Ala382Val Uncertain significance ★ same type
CFAP210 p.Ala405Val Uncertain significance ★ same type
CFAP210 p.Ala446Glu Uncertain significance ★ same type
CFAP210 p.Ala462Thr Uncertain significance ★ same type
CFAP210 p.Arg111His Uncertain significance ★ same type

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/cfap210-p-glu6lys (accessed [today's date]).

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