V13L (p.Val13Leu) variant of CHM (P24386)
V13L (p.Val13Leu) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- ESP rs150490682
- ExAC rs150490682
- TOPMed rs150490682
- gnomAD rs150490682
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.41
- MetaLR 0.32
- MetaSVM -0.60
- CADD 18.80
- PolyPhen-2 0.06
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available