L40F (p.Leu40Phe) variant of MRE11 (P49959)
L40F (p.Leu40Phe) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L40F (p.Leu40Phe) variant details
- p.Leu40Phe
- rs1947265336
- ClinGen CA382380697
- ClinVar RCV001327728
- ClinVar RCV003294313
- Conflicting interpretations
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.26
- AlphaMissense 0.07
- MetaLR 0.20
- MetaSVM -0.81
- CADD 0.10
- PolyPhen-2 0.02
- ClinVar: Conflicting classifications of pathogenicity (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)