E96V (p.Glu96Val) variant of BTK (Tyrosine-protein kinase BTK)
E96V (p.Glu96Val) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E96V (p.Glu96Val) variant details
- p.Glu96Val
- TOPMed rs1317277241
- gnomAD rs1317277241
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.43
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available