A34A (p.Ala34Ala) variant of SLC12A1 (Q13621)
A34A (p.Ala34Ala) 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.
A34A (p.Ala34Ala) variant details
- p.Ala34Ala
- rs2040999699
- gnomAD 15-48207821-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.09
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available