A21D (p.Ala21Asp) variant of BRIP1 (Fanconi anemia group J protein)
A21D (p.Ala21Asp) 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; Hereditary ca. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes published literature and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- rs1603368436
- ClinGen CA400485964
- ClinVar RCV000804020
- ClinVar RCV001823167
- Uncertain significance
- Familial cancer of breast; Fanconi anemia complementation group J; Hereditary ca
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- AlphaMissense 0.50
- MetaLR 0.45
- MetaSVM -0.09
- PolyPhen-2 1.00
- SIFT 0.10
- EVE 0.76
- 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)