Is IFT27 p.Val91Met (c.271G>A) pathogenic?

IFT27 p.Val91Met (c.271G>A) is classified Uncertain significance in IFT27 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-06-20). AlphaMissense: likely benign (0.3173); Absent from gnomAD v4.1.

How common is IFT27 p.Val91Met (c.271G>A) in the general population?

IFT27 p.Val91Met (c.271G>A) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about IFT27 p.Val91Met (c.271G>A)?

AlphaMissense predicts likely benign (score 0.3173) — an in-silico prediction, not a clinical call.

IFT27 p.Val91Met

c.271G>A · rs147299700 · VCV1502467

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.3173 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL indeterminate

⚠ 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
AlphaMissense	0.3173	likely benign
REVEL	0.636	indeterminate
SaProt	LLR -11.99	damaging
⇒ SaProt calls this damaging; AlphaMissense does not; REVEL is indeterminate.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 5.9	GERP 0.74, phastCons 1
Regional constraint	o/e 0.90	unconstrained · MANE · 17 kb · p 0.13 · regional, not allelic
Overall
CADD	24.8	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

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: IFT27
Protein: p.Val91Met
Coding: c.271G>A
MANE Select: NM_001177701
dbSNP: rs147299700
Type: single nucleotide variant
Location: chr22:36764000 (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-val91met (accessed [today's date]).

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