G30S (p.Gly30Ser) variant of KCNJ3 (P48549)
G30S (p.Gly30Ser) 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, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- gnomAD 2-154698863-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.19
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.55
- Population evidence available
- Structural context available
- Literature evidence available