A28A (p.Ala28Ala) variant of SLC12A2 (P55011)
A28A (p.Ala28Ala) in SLC12A2 (P55011) 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.
A28A (p.Ala28Ala) variant details
- p.Ala28Ala
- gnomAD 5-128084038-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 6.51
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available