N30D (p.Asn30Asp) variant of BRIP1 (Fanconi anemia group J protein)
N30D (p.Asn30Asp) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs747867580
- ClinGen CA8691013
- ClinVar RCV002376040
- ExAC rs747867580
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.49
- CADD 26.80
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)