V32L (p.Val32Leu) variant of RAD51D (O75771)
V32L (p.Val32Leu) in RAD51D (O75771) 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 0.35 / 1. The record also includes population frequency data and structural context.
V32L (p.Val32Leu) variant details
- p.Val32Leu
- Ensembl rs876659111
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available