N34Y (p.Asn34Tyr) variant of MRE11 (P49959)
N34Y (p.Asn34Tyr) 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 0.62 / 1. The record also includes structural context.
N34Y (p.Asn34Tyr) variant details
- p.Asn34Tyr
- rs1947265904
- ClinGen CA382380765
- ClinVar RCV001341992
- Ensembl rs1947265904
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.16
- MetaLR 0.70
- MetaSVM 0.54
- PolyPhen-2 0.98
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available