N60Y (p.Asn60Tyr) variant of SCN1A (P35498)
N60Y (p.Asn60Tyr) in SCN1A (P35498) 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 and structural context.
N60Y (p.Asn60Tyr) variant details
- p.Asn60Tyr
- ExAC rs768312630
- gnomAD rs768312630
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 23.30
- PolyPhen-2 0.12
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available