Q11P (p.Gln11Pro) variant of RAD51C (O43502)
Q11P (p.Gln11Pro) in RAD51C (O43502) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q11P (p.Gln11Pro) variant details
- p.Gln11Pro
- TOPMed rs730881937
- gnomAD rs730881937
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.24
- CADD 28.90
- PolyPhen-2 0.70
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available