I70V (p.Ile70Val) variant of ITK (Tyrosine-protein kinase ITK/TSK)
I70V (p.Ile70Val) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- gnomAD 5-157208958-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 18.90
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available