P23R (p.Pro23Arg) variant of ITK (Tyrosine-protein kinase ITK/TSK)
P23R (p.Pro23Arg) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P23R (p.Pro23Arg) variant details
- p.Pro23Arg
- gnomAD 5-157181045-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.78
- ESM-1b 0.76
- AlphaMissense 0.91
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available