L68F (p.Leu68Phe) variant of KCNJ3 (P48549)
L68F (p.Leu68Phe) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- ExAC rs766216456
- TOPMed rs766216456
- gnomAD rs766216456
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.48
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available