S18A (p.Ser18Ala) variant of KCNJ3 (P48549)
S18A (p.Ser18Ala) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S18A (p.Ser18Ala) variant details
- p.Ser18Ala
- ExAC rs779681417
- TOPMed rs779681417
- gnomAD rs779681417
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available