D51H (p.Asp51His) variant of BCL10 (B-cell lymphoma/leukemia 10)
D51H (p.Asp51His) in BCL10 (B-cell lymphoma/leukemia 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 37. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1.
D51H (p.Asp51His) variant details
- p.Asp51His
- rs1570333814
- ClinGen CA340951867
- ClinVar RCV000806279
- Ensembl rs1570333814
- Uncertain significance
- Immunodeficiency 37
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.99
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Immunodeficiency 37)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance