S38R (p.Ser38Arg) variant of BRIP1 (Fanconi anemia group J protein)
S38R (p.Ser38Arg) 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 Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
S38R (p.Ser38Arg) variant details
- p.Ser38Arg
- rs2078951392
- ClinGen CA400485845
- ClinVar RCV001307190
- Ensembl rs2078951392
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Fanconi anemia complementation group J
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.30
- MetaLR 0.09
- MetaSVM -1.02
- PolyPhen-2 0.32
- SIFT 0.61
- EVE 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Fanconi anemia compleme)
- EBI: Benign
- UniProt: Benign
- 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)