F30S (p.Phe30Ser) variant of ITK (Tyrosine-protein kinase ITK/TSK)
F30S (p.Phe30Ser) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- gnomAD 5-157181066-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.77
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 26.90
- PolyPhen-2 0.56
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available