A22T (p.Ala22Thr) variant of BRCA2 (P51587)
A22T (p.Ala22Thr) 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.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- rs2138698595
- ClinGen CA387753111
- cosmic curated COSV61526
- ClinVar RCV002364132
- Uncertain significance
- Missense
- AlphaMissense 0.43
- MetaLR 0.01
- MetaSVM -0.96
- SIFT 0.00
- MutPred 0.33
- 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)