E41K (p.Glu41Lys) variant of BTK (Tyrosine-protein kinase BTK)
E41K (p.Glu41Lys) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E41K (p.Glu41Lys) variant details
- p.Glu41Lys
- Ensembl rs1057520045
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.83
- CADD 26.60
- PolyPhen-2 0.75
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.234