V17L (p.Val17Leu) variant of MRE11 (P49959)
V17L (p.Val17Leu) 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 0.45 / 1. The record also includes structural context.
V17L (p.Val17Leu) variant details
- p.Val17Leu
- rs1060501790
- ClinGen CA16613466
- ClinVar RCV002230785
- TOPMed rs1060501790
- Uncertain significance
- Ataxia-telangiectasia-like disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- AlphaMissense 0.27
- MetaLR 0.39
- MetaSVM -0.43
- PolyPhen-2 0.83
- SIFT 0.10
- MutPred 0.68
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available