S2R (p.Ser2Arg) variant of MRE11 (P49959)
S2R (p.Ser2Arg) 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 0.32 / 1. The record also includes population frequency data and structural context.
S2R (p.Ser2Arg) variant details
- p.Ser2Arg
- rs777751367
- ClinGen CA336979
- ClinVar RCV001303166
- ExAC rs777751367
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.22
- CADD 20.60
- PolyPhen-2 0.20
- SIFT 0.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available