I15L (p.Ile15Leu) variant of KCNJ5 (P48544)
I15L (p.Ile15Leu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
I15L (p.Ile15Leu) variant details
- p.Ile15Leu
- ExAC rs756853186
- gnomAD rs756853186
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.36
- MetaLR 0.60
- MetaSVM -0.64
- CADD 19.60
- PolyPhen-2 0.04
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available