Y22N (p.Tyr22Asn) variant of BRIP1 (Fanconi anemia group J protein)
Y22N (p.Tyr22Asn) in BRIP1 (Fanconi anemia group J protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
Y22N (p.Tyr22Asn) variant details
- p.Tyr22Asn
- rs876659008
- ClinGen CA10580896
- ClinVar RCV000218322
- ClinVar RCV001051421
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- AlphaMissense 0.85
- MetaLR 0.51
- MetaSVM 0.19
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- 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)