V34L (p.Val34Leu) variant of BTK (Tyrosine-protein kinase BTK)
V34L (p.Val34Leu) 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 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V34L (p.Val34Leu) variant details
- p.Val34Leu
- rs141488935
- ClinGen CA413939433
- ClinVar RCV003046447
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.21
- CADD 7.34
- PolyPhen-2 0.00
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.102