N48D (p.Asn48Asp) variant of DCX (O43602)
N48D (p.Asn48Asp) in DCX (O43602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- TOPMed rs1276278929
- gnomAD rs1276278929
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available