L14V (p.Leu14Val) variant of FERMT1 (Fermitin family homolog 1)
L14V (p.Leu14Val) in FERMT1 (Fermitin family homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L14V (p.Leu14Val) variant details
- p.Leu14Val
- 1000Genomes rs1983207194
- gnomAD rs1983207194
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.38
- CADD 24.50
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available