F60L (p.Phe60Leu) variant of KCNJ11 (Q14654)
F60L (p.Phe60Leu) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- ExAC rs770553801
- gnomAD rs770553801
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available