A104V (p.Ala104Val) variant of CHM (P24386)
A104V (p.Ala104Val) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, 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 0.37 / 1. The record also includes structural context.
A104V (p.Ala104Val) variant details
- p.Ala104Val
- rs11539374
- ClinGen CA413787765
- ClinVar RCV002296058
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.14
- MetaLR 0.31
- MetaSVM -0.52
- PolyPhen-2 0.02
- SIFT 0.10
- EVE 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available