G11C (p.Gly11Cys) variant of SLC12A2 (P55011)
G11C (p.Gly11Cys) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G11C (p.Gly11Cys) variant details
- p.Gly11Cys
- gnomAD 5-128083985-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.27
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available