V58I (p.Val58Ile) variant of BTK (Tyrosine-protein kinase BTK)
V58I (p.Val58Ile) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V58I (p.Val58Ile) variant details
- p.Val58Ile
- Ensembl rs1927145834
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.19
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.016