I56V (p.Ile56Val) variant of BTK (Tyrosine-protein kinase BTK)
I56V (p.Ile56Val) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I56V (p.Ile56Val) variant details
- p.Ile56Val
- cosmic curated COSV10043
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.25
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.191