V34M (p.Val34Met) variant of BTK (Tyrosine-protein kinase BTK)
V34M (p.Val34Met) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V34M (p.Val34Met) variant details
- p.Val34Met
- rs141488935
- ClinGen CA10473233
- ClinVar RCV001169612
- ClinVar RCV001169613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.10
- CADD 13.70
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00073)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.102
- Cited in: X-Linked Agammaglobulinemia. (PMID 20301626)