H5Y (p.His5Tyr) variant of CTNNA1 (Catenin alpha-1)
H5Y (p.His5Tyr) in CTNNA1 (Catenin alpha-1) 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 0.36 / 1. The record also includes structural context.
H5Y (p.His5Tyr) variant details
- p.His5Tyr
- rs1755157382
- ClinGen CA361477043
- cosmic curated COSV10513
- ClinVar RCV001042158
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.13
- MetaLR 0.22
- MetaSVM -0.77
- PolyPhen-2 0.00
- SIFT 0.28
- MutPred 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available