A128V (p.Ala128Val) variant of CHM (P24386)
A128V (p.Ala128Val) 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 0.31 / 1. The record also includes structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- rs2147676316
- ClinGen CA413787305
- ClinVar RCV001883995
- Ensembl rs2147676316
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.07
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.30
- MutPred 0.39
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available