G58A (p.Gly58Ala) variant of MRE11 (P49959)
G58A (p.Gly58Ala) 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 0.81 / 1. The record also includes population frequency data and structural context.
G58A (p.Gly58Ala) variant details
- p.Gly58Ala
- rs1482890077
- ClinGen CA382379901
- ClinVar RCV002239159
- TOPMed rs1482890077
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.83
- CADD 25.20
- PolyPhen-2 0.82
- SIFT 0.05
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available