V178L (p.Val178Leu) variant of FERMT1 (Fermitin family homolog 1)
V178L (p.Val178Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V178L (p.Val178Leu) variant details
- p.Val178Leu
- TOPMed rs1173059236
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.07
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.35
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available