N30D (p.Asn30Asp) variant of BRCA2 (P51587)
N30D (p.Asn30Asp) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and published literature.
N30D (p.Asn30Asp) variant details
- p.Asn30Asp
- rs1253463092
- ClinGen CA387754088
- ClinVar RCV000586126
- ClinVar RCV002377210
- Uncertain significance
- Missense
- AlphaMissense 0.17
- MetaLR 0.01
- MetaSVM -0.87
- SIFT 0.12
- MutPred 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)