L108V (p.Leu108Val) variant of CHM (P24386)
L108V (p.Leu108Val) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L108V (p.Leu108Val) variant details
- p.Leu108Val
- TOPMed rs988556691
- gnomAD rs988556691
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.08
- MetaLR 0.07
- MetaSVM -1.02
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available