K131I (p.Lys131Ile) variant of RAD51C (O43502)
K131I (p.Lys131Ile) 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; Inherited breast cancer and ovarian can. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
K131I (p.Lys131Ile) variant details
- p.Lys131Ile
- rs762761380
- ClinGen CA400341996
- ClinVar RCV000822638
- ClinVar RCV004029111
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Inherited breast cancer and ovarian can
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.96
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Inherited breast cancer)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)