D23V (p.Asp23Val) variant of BRCA2 (P51587)
D23V (p.Asp23Val) 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.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- rs774521832
- ClinGen CA10579444
- ClinVar RCV000217960
- ExAC rs774521832
- Uncertain significance
- Missense
- AlphaMissense 0.54
- MetaLR 0.02
- MetaSVM -1.10
- SIFT 0.00
- MutPred 0.37
- 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)