L27P (p.Leu27Pro) variant of RAD51C (O43502)
L27P (p.Leu27Pro) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
L27P (p.Leu27Pro) variant details
- p.Leu27Pro
- rs587781309
- ClinGen CA163703
- ClinVar RCV000129034
- ClinVar RCV000552582
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Hereditary breast ovarian cancer syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.71
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Hereditary breast ovari)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. (PMID 17392385)