S113F (p.Ser113Phe) variant of KCNQ2 (O43526)
S113F (p.Ser113Phe) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
S113F (p.Ser113Phe) variant details
- p.Ser113Phe
- rs796052616
- ClinGen CA315349
- ClinVar RCV000187850
- ClinVar RCV003315312
- Conflicting interpretations
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.98
- MetaLR 0.75
- MetaSVM 0.68
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.25
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available