H44H (p.His44His) variant of SLC12A1 (Q13621)
H44H (p.His44His) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H44H (p.His44His) variant details
- p.His44His
- gnomAD 15-48207851-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available