S5P (p.Ser5Pro) variant of KCNJ5 (P48544)
S5P (p.Ser5Pro) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S5P (p.Ser5Pro) variant details
- p.Ser5Pro
- gnomAD 11-128911286-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.42
- MetaLR 0.78
- MetaSVM -0.11
- CADD 26.20
- PolyPhen-2 0.73
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available