N60K (p.Asn60Lys) variant of SCN1A (P35498)
N60K (p.Asn60Lys) in SCN1A (P35498) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
N60K (p.Asn60Lys) variant details
- p.Asn60Lys
- ExAC rs746510690
- TOPMed rs746510690
- gnomAD rs746510690
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.58
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available