L23V (p.Leu23Val) variant of MRE11 (P49959)
L23V (p.Leu23Val) 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.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- rs1591726771
- ClinGen CA382380944
- ClinVar RCV001025666
- Ensembl rs1591726771
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- AlphaMissense 0.16
- MetaLR 0.65
- MetaSVM 0.12
- PolyPhen-2 0.95
- SIFT 0.84
- 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)