N50N (p.Asn50Asn) variant of SCN1B (Q07699)
N50N (p.Asn50Asn) in SCN1B (Q07699) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N50N (p.Asn50Asn) variant details
- p.Asn50Asn
- rs147073518
- gnomAD 19-35032637-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.76
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available