S5F (p.Ser5Phe) variant of KCNJ5 (P48544)
S5F (p.Ser5Phe) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S5F (p.Ser5Phe) variant details
- p.Ser5Phe
- gnomAD 11-128911287-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.52
- MetaLR 0.72
- MetaSVM -0.14
- CADD 23.10
- PolyPhen-2 0.51
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available