S10Y (p.Ser10Tyr) variant of SLC12A2 (P55011)
S10Y (p.Ser10Tyr) in SLC12A2 (P55011) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
S10Y (p.Ser10Tyr) variant details
- p.Ser10Tyr
- gnomAD 5-128083983-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.22
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available