P10R (p.Pro10Arg) variant of RAD51D (O75771)
P10R (p.Pro10Arg) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Breast-ovarian cancer, familial, susceptibility to, 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- ExAC rs759505297
- TOPMed rs759505297
- gnomAD rs759505297
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.51
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available