L59V (p.Leu59Val) variant of CHM (P24386)
L59V (p.Leu59Val) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L59V (p.Leu59Val) variant details
- p.Leu59Val
- TOPMed rs1239638778
- gnomAD rs1239638778
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.22
- MetaLR 0.38
- MetaSVM -0.71
- CADD 13.10
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available