L27V (p.Leu27Val) variant of RAD51C (O43502)
L27V (p.Leu27Val) in RAD51C (O43502) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- TOPMed rs786201775
- gnomAD rs786201775
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- CADD 22.50
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available