S73R (p.Ser73Arg) variant of SLC12A3 (P55017)
S73R (p.Ser73Arg) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S73R (p.Ser73Arg) variant details
- p.Ser73Arg
- gnomAD 16-56865452-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- MetaLR 0.87
- MetaSVM 0.94
- CADD 25.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available