IFT81 p.Ile417=
c.1251A>C · rs150521700 · VCV1164612
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.289%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 9.247 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.289%
African / African-American · 217/75,002 alleles
Filtering AF
0.258%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.246%
Overall
0.0184%
296/1,611,552 alleles · rare
exomes 158/1,459,252 · genomes 138/152,300 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.289% | 346 |
| Middle Eastern | 0.033% | 3,028 |
| Remaining individualsnot grpmax-eligible | 0.0288% | 3,467 |
| Admixed American | 0.02% | 5,001 |
| European (non-Finnish) | 0.00399% | 25,064 |
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
- IFT81
- Protein
- p.Ile417=
- Coding
- c.1251A>C
- MANE Select
- NM_014055
- dbSNP
- rs150521700
- Type
- single nucleotide variant
- Location
- chr12:110180484 (GRCh38)
- Gene constraint
- LOEUF 1.054 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.45
- Residue 417
- a UniProt-annotated variant site (in srtd19)
Similar variants
- IFT81 p.Ile417Leu Uncertain significance ★ ⚠ same residue
- IFT81 p.Ile417Val Uncertain significance ★ ⚠ same residue
- IFT81 c.1717-2A>G Pathogenic/Likely pathogenic ★★ same type
- IFT81 c.249-1G>A Pathogenic/Likely pathogenic ★★ same type
- IFT81 p.Arg213Ter Pathogenic/Likely pathogenic ★★ same type
- IFT81 p.Arg399Ter Pathogenic/Likely pathogenic ★★ same type
- IFT81 p.Arg481Ter Pathogenic/Likely pathogenic ★★ same type
- IFT81 p.Arg512Ter Pathogenic/Likely pathogenic ★★ 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/ift81-p-ile417 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown