P10L (p.Pro10Leu) variant of RAD51D (O75771)
P10L (p.Pro10Leu) 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; Hereditary breast ovarian. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs759505297
- ClinGen CA8499708
- ClinVar RCV000550362
- ClinVar RCV000571598
- Uncertain significance
- Breast-ovarian cancer, familial, susceptibility to, 4; Hereditary breast ovarian
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.42
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Breast-ovarian cancer, familial, susceptibility to, 4; Hereditar)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00057)
- Structural context available
- Cited in: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. (PMID 12692171)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)