T131P (p.Thr131Pro) variant of RAD51 (Q06609)
T131P (p.Thr131Pro) in RAD51 (Q06609) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Fanconi anemia complementation group R. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes published literature and structural context.
T131P (p.Thr131Pro) variant details
- p.Thr131Pro
- rs1895530875
- ClinGen CA391751197
- ClinVar RCV001172541
- ClinVar RCV001194791
- Pathogenic
- not provided; Fanconi anemia complementation group R
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- AlphaMissense 0.99
- MetaLR 0.62
- MetaSVM 0.51
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.87
- ClinVar: Pathogenic (not provided; Fanconi anemia complementation group R)
- EBI: Pathogenic (in FANCR)
- UniProt: Pathogenic (in FANCR)
- Structural context available
- Cited in: A Dominant Mutation in Human RAD51 Reveals Its Function in DNA Interstrand Crosslink Repair Independent of Homologous… (PMID 26253028)
- Cited in: Fanconi Anemia. (PMID 20301575)