Y12C (p.Tyr12Cys) variant of KCNJ3 (P48549)
Y12C (p.Tyr12Cys) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- TOPMed rs1271832848
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.74
- CADD 28.70
- Population evidence available
- Structural context available