P82L (p.Pro82Leu) variant of SCN1A (P35498)
P82L (p.Pro82Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
P82L (p.Pro82Leu) variant details
- p.Pro82Leu
- rs2105982111
- ClinGen CA349242671
- ClinVar RCV005626534
- ClinVar RCV006557973
- Conflicting interpretations
- not provided; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- AlphaMissense 0.29
- MetaLR 0.94
- MetaSVM 1.10
- PolyPhen-2 0.58
- SIFT 0.00
- EVE 0.75
- ClinVar: Conflicting classifications of pathogenicity (not provided; Early-infantile DEE)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available