D23H (p.Asp23His) variant of BRCA2 (P51587)
D23H (p.Asp23His) in BRCA2 (P51587) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes variant effect predictions.
D23H (p.Asp23His) variant details
- p.Asp23His
- rs397507881
- ClinGen CA387753121
- ClinVar RCV001358699
- Ensembl rs397507881
- Pathogenic
- Missense
- AlphaMissense 0.33
- MetaLR 0.36
- MetaSVM -0.27
- SIFT 0.00
- MutPred 0.34
- EBI: Pathogenic
- UniProt: Pathogenic