A10V (p.Ala10Val) variant of FERMT1 (Fermitin family homolog 1)
A10V (p.Ala10Val) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- TOPMed rs1983207902
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available