V121L (p.Val121Leu) variant of FERMT1 (Fermitin family homolog 1)
V121L (p.Val121Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V121L (p.Val121Leu) variant details
- p.Val121Leu
- ExAC rs766455399
- gnomAD rs766455399
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.31
- CADD 24.20
- PolyPhen-2 0.54
- SIFT 0.01
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available