T131A (p.Thr131Ala) variant of CHM (P24386)
T131A (p.Thr131Ala) 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.
T131A (p.Thr131Ala) variant details
- p.Thr131Ala
- rs1930440793
- ClinGen CA413787290
- ClinVar RCV001325009
- Ensembl rs1930440793
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.06
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.00
- SIFT 0.38
- MutPred 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available