F80L (p.Phe80Leu) variant of KCNJ10 (P78508)
F80L (p.Phe80Leu) in KCNJ10 (P78508) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; EAST syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data.
F80L (p.Phe80Leu) variant details
- p.Phe80Leu
- ESP rs377638115
- ExAC rs377638115
- TOPMed rs377638115
- gnomAD rs377638115
- Uncertain significance
- not provided; EAST syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 22.90
- PolyPhen-2 0.96
- SIFT 0.41
- ClinVar: Uncertain significance (not provided; EAST syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available