E65A (p.Glu65Ala) variant of BTK (Tyrosine-protein kinase BTK)
E65A (p.Glu65Ala) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
E65A (p.Glu65Ala) variant details
- p.Glu65Ala
- gnomAD rs1555980793
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.69
- CADD 25.30
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the South Asian population (allele frequency 9.2e-05)
- Structural context available