V105A (p.Val105Ala) variant of BTK (Tyrosine-protein kinase BTK)
V105A (p.Val105Ala) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V105A (p.Val105Ala) variant details
- p.Val105Ala
- 1000Genomes rs782626687
- ExAC rs782626687
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.79
- CADD 22.50
- PolyPhen-2 0.91
- SIFT 0.05
- Most common in the 1KG:ACB population (allele frequency 0.0073)
- Structural context available