K41N (p.Lys41Asn) variant of SCN1A (P35498)
K41N (p.Lys41Asn) in SCN1A (P35498) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K41N (p.Lys41Asn) variant details
- p.Lys41Asn
- TOPMed rs1276806499
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 16.60
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available