K36E (p.Lys36Glu) variant of SCN8A (Q9UQD0)
K36E (p.Lys36Glu) in SCN8A (Q9UQD0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
K36E (p.Lys36Glu) variant details
- p.Lys36Glu
- gnomAD 12-51662923-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.77
- MetaSVM 0.44
- CADD 22.90
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available