I52V (p.Ile52Val) variant of FERMT1 (Fermitin family homolog 1)
I52V (p.Ile52Val) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
I52V (p.Ile52Val) variant details
- p.Ile52Val
- gnomAD rs1296444669
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.04
- CADD 7.15
- PolyPhen-2 0.00
- SIFT 0.83
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available