I94V (p.Ile94Val) variant of BTK (Tyrosine-protein kinase BTK)
I94V (p.Ile94Val) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I94V (p.Ile94Val) variant details
- p.Ile94Val
- TOPMed rs1450054904
- gnomAD rs1450054904
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.28
- CADD 19.20
- PolyPhen-2 0.65
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available