V116L (p.Val116Leu) variant of FERMT1 (Fermitin family homolog 1)
V116L (p.Val116Leu) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V116L (p.Val116Leu) variant details
- p.Val116Leu
- TOPMed rs1188124850
- gnomAD rs1188124850
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.09
- CADD 19.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available