P73L (p.Pro73Leu) variant of SCN8A (Q9UQD0)
P73L (p.Pro73Leu) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- rs1592363476
- ClinGen CA385228368
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- Uncertain significance
- Developmental and epileptic encephalopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- ESM-1b 1.00
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available