D57H (p.Asp57His) variant of BTK (Tyrosine-protein kinase BTK)
D57H (p.Asp57His) in BTK (Tyrosine-protein kinase BTK) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D57H (p.Asp57His) variant details
- p.Asp57His
- gnomAD rs1555980795
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.73
- CADD 24.70
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- BTK SH3 domain domainome 1.0: score -0.0183