H44H (p.His44His) variant of SLC12A3 (P55017)
H44H (p.His44His) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H44H (p.His44His) variant details
- p.His44His
- gnomAD 16-56865367-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.23
- CADD 7.85
- Population evidence available
- Structural context available
- Literature evidence available