M1V (p.Met1Val) variant of BRIP1 (Fanconi anemia group J protein)
M1V (p.Met1Val) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs764585550
- ClinGen CA197496
- ClinVar RCV000167101
- ClinVar RCV000410570
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- MetaLR 0.53
- MetaSVM -0.25
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.97
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National… (PMID 17508274)