V23L (p.Val23Leu) variant of FAS (P25445)
V23L (p.Val23Leu) in FAS (P25445) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- ExAC rs779039838
- TOPMed rs779039838
- gnomAD rs779039838
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- CADD 4.82
- PolyPhen-2 0.12
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available