L61V (p.Leu61Val) variant of MRE11 (P49959)
L61V (p.Leu61Val) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
L61V (p.Leu61Val) variant details
- p.Leu61Val
- rs786203268
- ClinGen CA196037
- ClinVar RCV000166500
- ClinVar RCV001294988
- Uncertain significance
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.79
- AlphaMissense 0.22
- MetaLR 0.81
- MetaSVM 0.75
- CADD 24.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- 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)