C52C (p.Cys52Cys) variant of SLC12A3 (P55017)
C52C (p.Cys52Cys) in SLC12A3 (P55017) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
C52C (p.Cys52Cys) variant details
- p.Cys52Cys
- rs762861869
- gnomAD 16-56865391-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.484
- CADD 10.90
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Literature evidence available