H30H (p.His30His) variant of SLC12A1 (Q13621)
H30H (p.His30His) in SLC12A1 (Q13621) 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.
H30H (p.His30His) variant details
- p.His30His
- rs143744003
- gnomAD 15-48207809-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0832
- CADD 0.43
- Most common in the African/African-American population (allele frequency 0.00043)
- Structural context available
- Literature evidence available