S342L (p.Ser342Leu) variant of KCNQ2 (O43526)
S342L (p.Ser342Leu) 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; Seizures, benign familial neonata. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
S342L (p.Ser342Leu) variant details
- p.Ser342Leu
- rs2080907267
- ClinGen CA409651303
- ClinVar RCV006466618
- Ensembl rs2080907267
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7; Seizures, benign familial neonata
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- AlphaMissense 0.42
- MetaLR 0.86
- MetaSVM 0.95
- PolyPhen-2 0.63
- SIFT 0.00
- EVE 0.18
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7; Seizures, benign)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available