K38R (p.Lys38Arg) variant of SCN2A (Q99250)
K38R (p.Lys38Arg) in SCN2A (Q99250) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
K38R (p.Lys38Arg) variant details
- p.Lys38Arg
- gnomAD 2-165295936-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.53
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.88
- MetaSVM 0.95
- CADD 23.90
- Most common in the Non-Finnish European population (allele frequency 0.00035)
- Structural context available
- Literature evidence available