R198P (p.Arg198Pro) variant of KCNQ2 (O43526)
R198P (p.Arg198Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
R198P (p.Arg198Pro) variant details
- p.Arg198Pro
- rs796052621
- ClinGen CA409654818
- ClinVar RCV003130514
- ClinVar RCV006466817
- Likely pathogenic
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (not provided; Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available