Y76H (p.Tyr76His) variant of ITK (Tyrosine-protein kinase ITK/TSK)
Y76H (p.Tyr76His) in ITK (Tyrosine-protein kinase ITK/TSK) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lymphoproliferative syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Y76H (p.Tyr76His) variant details
- p.Tyr76His
- ExAC rs777806304
- gnomAD rs777806304
- Uncertain significance
- Lymphoproliferative syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 24.20
- PolyPhen-2 0.94
- SIFT 0.26
- ClinVar: Uncertain significance (Lymphoproliferative syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available