P11T (p.Pro11Thr) variant of SCN8A (Q9UQD0)
P11T (p.Pro11Thr) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- rs1940950511
- ClinGen CA385227433
- ClinVar RCV001238746
- Ensembl rs1940950511
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- ESM-1b 1.00
- AlphaMissense 0.50
- MetaLR 0.90
- MetaSVM 0.82
- PolyPhen-2 1.00
- SIFT 0.17
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available