D12D (p.Asp12Asp) variant of SLC12A3 (P55017)
D12D (p.Asp12Asp) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D12D (p.Asp12Asp) variant details
- p.Asp12Asp
- rs117987946
- gnomAD 16-56865271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 5.29
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available