N48H (p.Asn48His) variant of DCX (O43602)
N48H (p.Asn48His) in DCX (O43602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
N48H (p.Asn48His) variant details
- p.Asn48His
- gnomAD X-111410257-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 23.20
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available