V35I (p.Val35Ile) variant of RAD50 (DNA repair protein RAD50)
V35I (p.Val35Ile) 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 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- rs1554096654
- ClinGen CA360951658
- ClinVar RCV001975727
- Ensembl rs1554096654
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 28.50
- PolyPhen-2 0.96
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- 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)