D8V (p.Asp8Val) variant of MRE11 (P49959)
D8V (p.Asp8Val) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
D8V (p.Asp8Val) variant details
- p.Asp8Val
- rs1591726907
- ClinGen CA382381175
- ClinVar RCV001015410
- Ensembl rs1591726907
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- AlphaMissense 0.12
- MetaLR 0.62
- MetaSVM 0.34
- PolyPhen-2 0.98
- SIFT 0.01
- MutPred 0.48
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)