V18I (p.Val18Ile) variant of FERMT1 (Fermitin family homolog 1)
V18I (p.Val18Ile) in FERMT1 (Fermitin family homolog 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs780463226
- ClinGen CA9758559
- ClinVar RCV002520028
- ExAC rs780463226
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- CADD 11.70
- PolyPhen-2 0.04
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available