P76S (p.Pro76Ser) variant of SCN1A (P35498)
P76S (p.Pro76Ser) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
P76S (p.Pro76Ser) variant details
- p.Pro76Ser
- rs1574371737
- ClinGen CA349242740
- ClinVar RCV006464348
- Ensembl rs1574371737
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.12
- PolyPhen-2 0.58
- SIFT 0.00
- EVE 0.72
- ClinVar: Likely pathogenic (Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available