L88H (p.Leu88His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
L88H (p.Leu88His) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L88H (p.Leu88His) variant details
- p.Leu88His
- gnomAD rs1334373357
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- REVEL 0.47
- ESM-1b 0.35
- AlphaMissense 0.36
- CADD 23.10
- PolyPhen-2 0.71
- SIFT 0.28
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available