H47H (p.His47His) variant of SLC12A3 (P55017)
H47H (p.His47His) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
H47H (p.His47His) variant details
- p.His47His
- rs745735257
- gnomAD 16-56865376-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0835
- CADD 0.41
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available
- Literature evidence available