P23A (p.Pro23Ala) variant of BRIP1 (Fanconi anemia group J protein)
P23A (p.Pro23Ala) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast; Fanconi anemia complementation group J; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs1603368425
- ClinGen CA400485953
- ClinVar RCV002044445
- ClinVar RCV002268577
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- AlphaMissense 0.58
- MetaLR 0.48
- MetaSVM -0.07
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.64
- ClinVar: Uncertain significance (Familial cancer of breast; Fanconi anemia complementation group)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)