R27K (p.Arg27Lys) variant of SCN8A (Q9UQD0)
R27K (p.Arg27Lys) in SCN8A (Q9UQD0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R27K (p.Arg27Lys) variant details
- p.Arg27Lys
- rs1303731165
- ClinGen CA385227624
- ClinVar RCV001360025
- ClinVar RCV003490221
- Uncertain significance
- not specified; Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.44
- MetaSVM -0.29
- CADD 18.30
- ClinVar: Uncertain significance (not specified; Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available