A121P (p.Ala121Pro) variant of SCN1A (Nav1.1)
A121P (p.Ala121Pro) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Generalized epilepsy with febrile seizures plus, type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
A121P (p.Ala121Pro) variant details
- p.Ala121Pro
- rs1699353976
- ClinGen CA349076861
- ClinVar RCV001030999
- ClinVar RCV005401688
- Pathogenic/Likely pathogenic
- not provided; Generalized epilepsy with febrile seizures plus, type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic/Likely pathogenic (not provided; Generalized epilepsy with febrile seizures plus, t)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: SCN1A Seizure Disorders. (PMID 20301494)