A29A (p.Ala29Ala) variant of SLC12A2 (P55011)
A29A (p.Ala29Ala) in SLC12A2 (P55011) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A29A (p.Ala29Ala) variant details
- p.Ala29Ala
- rs994939943
- gnomAD 5-128084041-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 9.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available