N37S (p.Asn37Ser) variant of BRIP1 (Fanconi anemia group J protein)
N37S (p.Asn37Ser) 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 0.46 / 1. The record also includes published literature and structural context.
N37S (p.Asn37Ser) variant details
- p.Asn37Ser
- rs876659105
- ClinGen CA10580893
- ClinVar RCV000222467
- ClinVar RCV000764136
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- AlphaMissense 0.10
- MetaLR 0.51
- MetaSVM -0.04
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.27
- 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)