F8L (p.Phe8Leu) variant of KCNJ3 (P48549)
F8L (p.Phe8Leu) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F8L (p.Phe8Leu) variant details
- p.Phe8Leu
- ExAC rs765048252
- TOPMed rs765048252
- gnomAD rs765048252
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.32
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available