V1637A (p.Val1637Ala) variant of SCN1A (Nav1.1)
V1637A (p.Val1637Ala) in SCN1A (Nav1.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Generalized epilepsy with febrile seizures plus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V1637A (p.Val1637Ala) variant details
- p.Val1637Ala
- rs121918810
- ClinGen CA349070310
- ClinVar RCV006466339
- Ensembl rs121918810
- Likely pathogenic
- Generalized epilepsy with febrile seizures plus
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Generalized epilepsy with febrile seizures plus)
- EBI: Variant of uncertain significance (in DRVT)
- UniProt: Uncertain significance (in DRVT)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available