Is IFT27 p.Lys155= (c.465A>G) pathogenic?

IFT27 p.Lys155= (c.465A>G) is classified Uncertain significance in IFT27 (ClinVar, Single submitter, 2 submitters; last evaluated 2022-07-06). Very rare (popmax 0.00212%, nfe).

How common is IFT27 p.Lys155= (c.465A>G) in the general population?

IFT27 p.Lys155= (c.465A>G) is very rare (popmax 0.00212%, nfe) (gnomAD).

IFT27 p.Lys155=

c.465A>G · rs779134370 · VCV962878

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

very rare (popmax 0.00212%, nfe)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Pangolin	Δ0.36	gain · loss 0.01 · independent
Constraint at this position
Conservation	phyloP 0.77	GERP 0.69, phastCons 1
Overall
CADD	16.93	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00212% European (non-Finnish) · 25/1,179,030 alleles

Filtering AF 0.00145% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00123%

Overall 0.00161% 26/1,612,770 alleles · very rare exomes 25/1,460,570 · genomes 1/152,200 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00212%	47,161
African / African-American	0.00134%	74,898

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: IFT27
Protein: p.Lys155=
Coding: c.465A>G
MANE Select: NM_001177701
dbSNP: rs779134370
Type: single nucleotide variant
Location: chr22:36758407 (GRCh38)

Full IFT27 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/ift27-p-lys155 (accessed [today's date]).

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