Y127F (p.Tyr127Phe) variant of KCNQ2 (O43526)
Y127F (p.Tyr127Phe) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Y127F (p.Tyr127Phe) variant details
- p.Tyr127Phe
- rs796052617
- ClinGen CA409656316
- ClinVar RCV002267678
- Ensembl rs796052617
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.18
- MetaLR 0.81
- MetaSVM 0.49
- PolyPhen-2 0.99
- SIFT 0.50
- EVE 0.18
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)