V17I (p.Val17Ile) variant of MRE11 (P49959)
V17I (p.Val17Ile) 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; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V17I (p.Val17Ile) variant details
- p.Val17Ile
- rs1060501790
- ClinGen CA382381043
- ClinVar RCV002233070
- TOPMed rs1060501790
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- 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; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available