K131Q (p.Lys131Gln) variant of RAD51C (O43502)
K131Q (p.Lys131Gln) in RAD51C (O43502) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
K131Q (p.Lys131Gln) variant details
- p.Lys131Gln
- rs2143727680
- ClinGen CA400341976
- ClinVar RCV001942864
- ClinVar RCV005428434
- Conflicting interpretations
- Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complement
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.96
- MetaLR 0.62
- MetaSVM 0.53
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Conflicting classifications of pathogenicity (Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi a)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)