G14D (p.Gly14Asp) variant of SLC12A2 (P55011)
G14D (p.Gly14Asp) in SLC12A2 (P55011) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G14D (p.Gly14Asp) variant details
- p.Gly14Asp
- gnomAD 5-128083992-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.621
- CADD 17.30
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available