Y112H (p.Tyr112His) variant of BTK (Tyrosine-protein kinase BTK)
Y112H (p.Tyr112His) in BTK (Tyrosine-protein kinase BTK) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes structural context.
Y112H (p.Tyr112His) variant details
- p.Tyr112His
- rs1926977049
- ClinGen CA413937245
- ClinVar RCV001041939
- Ensembl rs1926977049
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available