H30H (p.His30His) variant of WAS (P42768)
H30H (p.His30His) in WAS (P42768) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H30H (p.His30His) variant details
- p.His30His
- rs148800063
- gnomAD X-48683943-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.13
- Most common in the Middle Eastern population (allele frequency 0.0022)
- Structural context available
- Literature evidence available