H63Y (p.His63Tyr) variant of MRE11 (P49959)
H63Y (p.His63Tyr) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ataxia-telangiectasia-like disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes structural context.
H63Y (p.His63Tyr) variant details
- p.His63Tyr
- rs2135122992
- ClinGen CA382379817
- cosmic curated COSV60581
- ClinVar RCV001359999
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- AlphaMissense 0.98
- MetaLR 0.81
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available