P16L (p.Pro16Leu) variant of SCN8A (Q9UQD0)
P16L (p.Pro16Leu) in SCN8A (Q9UQD0) 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 0.67 / 1. The record also includes structural context.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs1940950901
- ClinGen CA385227490
- ClinVar RCV001054639
- Ensembl rs1940950901
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- ESM-1b 1.00
- AlphaMissense 0.10
- MetaLR 0.77
- MetaSVM 0.35
- PolyPhen-2 0.09
- SIFT 0.70
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available