G11A (p.Gly11Ala) variant of SLC12A2 (P55011)
G11A (p.Gly11Ala) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD 5-128083982-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.644
- CADD 23.50
- Population evidence available
- Structural context available
- Literature evidence available