P11S (p.Pro11Ser) variant of SCN1A (P35498)
P11S (p.Pro11Ser) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs1684706255
- ClinGen CA349243458
- ClinVar RCV006465134
- Ensembl rs1684706255
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- AlphaMissense 0.32
- MetaLR 0.89
- MetaSVM 0.92
- PolyPhen-2 0.54
- SIFT 0.02
- EVE 0.24
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available