H41H (p.His41His) variant of SLC12A3 (P55017)
H41H (p.His41His) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
H41H (p.His41His) variant details
- p.His41His
- rs757975762
- gnomAD 16-56865358-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.4
- CADD 6.17
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available