L19P (p.Leu19Pro) variant of RAD51D (O75771)
L19P (p.Leu19Pro) in RAD51D (O75771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, f. 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.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs1044486334
- ClinGen CA290007258
- cosmic curated COSV10723
- ClinVar RCV000573653
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome; Breast-ovarian cancer, f
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.22
- CADD 23.90
- PolyPhen-2 0.45
- SIFT 0.29
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome; Breast-o)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- 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)