D38D (p.Asp38Asp) variant of SLC12A1 (Q13621)
D38D (p.Asp38Asp) in SLC12A1 (Q13621) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
D38D (p.Asp38Asp) variant details
- p.Asp38Asp
- rs2040999845
- gnomAD 15-48207833-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 0.53
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available