L7F (p.Leu7Phe) variant of MRE11 (P49959)
L7F (p.Leu7Phe) 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; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- rs73517551
- ClinGen CA333186
- ClinVar RCV000129361
- ClinVar RCV000524527
- Conflicting interpretations
- Ataxia-telangiectasia-like disorder; Hereditary cancer-predisposing syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.21
- CADD 21.00
- PolyPhen-2 0.35
- SIFT 0.14
- ClinVar: Conflicting classifications of pathogenicity (Ataxia-telangiectasia-like disorder; Hereditary cancer-predispos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)