A13A (p.Ala13Ala) variant of SLC12A3 (P55017)
A13A (p.Ala13Ala) in SLC12A3 (P55017) 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.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- gnomAD 16-56865274-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available