H68H (p.His68His) variant of WAS (P42768)
H68H (p.His68His) in WAS (P42768) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
H68H (p.His68His) variant details
- p.His68His
- rs2062412549
- gnomAD X-48684354-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.168
- CADD 12.40
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available
- Literature evidence available