S23R (p.Ser23Arg) variant of SLC12A3 (P55017)
S23R (p.Ser23Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S23R (p.Ser23Arg) variant details
- p.Ser23Arg
- gnomAD rs1205171754
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.10
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available