V113D (p.Val113Asp) variant of BTK (Tyrosine-protein kinase BTK)
V113D (p.Val113Asp) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
V113D (p.Val113Asp) variant details
- p.Val113Asp
- rs128621190
- ClinGen CA255801
- ClinVar RCV000012109
- UniProt VAR 006225
- Pathogenic
- in XLA
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- EBI: Pathogenic (in XLA)
- UniProt: Pathogenic (in XLA)
- Structural context available
- Cited in: Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. (PMID 7849697)
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)