I79T (p.Ile79Thr) variant of BTK (Tyrosine-protein kinase BTK)
I79T (p.Ile79Thr) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I79T (p.Ile79Thr) variant details
- p.Ile79Thr
- gnomAD rs1555980788
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.36
- CADD 21.20
- PolyPhen-2 0.09
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available