S40N (p.Ser40Asn) variant of SLC12A3 (P55017)
S40N (p.Ser40Asn) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- gnomAD 16-56865354-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- MetaLR 0.29
- MetaSVM -0.65
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available