C52G (p.Cys52Gly) variant of SLC12A3 (P55017)
C52G (p.Cys52Gly) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
C52G (p.Cys52Gly) variant details
- p.Cys52Gly
- gnomAD 16-56865389-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- MetaLR 0.69
- MetaSVM 0.35
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available