V35L (p.Val35Leu) variant of RAD50 (DNA repair protein RAD50)
V35L (p.Val35Leu) in RAD50 (DNA repair protein RAD50) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- rs1554096654
- ClinGen CA360951678
- ClinVar RCV000570403
- Ensembl rs1554096654
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.90
- PolyPhen-2 0.68
- SIFT 0.27
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- 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)