K24E (p.Lys24Glu) variant of KCNJ5 (P48544)
K24E (p.Lys24Glu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
K24E (p.Lys24Glu) variant details
- p.Lys24Glu
- gnomAD 11-128911343-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.51
- MetaLR 0.81
- MetaSVM -0.07
- CADD 23.40
- PolyPhen-2 0.66
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available