G58S (p.Gly58Ser) variant of KCNJ3 (P48549)
G58S (p.Gly58Ser) 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, published literature, and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- gnomAD 2-154698947-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.75
- CADD 25.00
- PolyPhen-2 0.85
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available