F80S (p.Phe80Ser) variant of KCNQ2 (O43526)
F80S (p.Phe80Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
F80S (p.Phe80Ser) variant details
- p.Phe80Ser
- rs2082234077
- ClinGen CA409635096
- ClinVar RCV006466060
- Ensembl rs2082234077
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.84
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available