Y58F (p.Tyr58Phe) variant of SLC12A3 (P55017)
Y58F (p.Tyr58Phe) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
Y58F (p.Tyr58Phe) variant details
- p.Tyr58Phe
- cosmic curated COSV10959
- TOPMed rs1476198919
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 24.50
- PolyPhen-2 0.82
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available