A117V (p.Ala117Val) variant of CHM (P24386)
A117V (p.Ala117Val) in CHM (P24386) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
A117V (p.Ala117Val) variant details
- p.Ala117Val
- ExAC rs755819577
- gnomAD rs755819577
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -1.05
- CADD 20.80
- PolyPhen-2 0.12
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available