K59N (p.Lys59Asn) variant of SCN1A (P35498)
K59N (p.Lys59Asn) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
K59N (p.Lys59Asn) variant details
- p.Lys59Asn
- ExAC rs776279313
- gnomAD rs776279313
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available