D49N (p.Asp49Asn) variant of ATL1 (Atlastin-1)
D49N (p.Asp49Asn) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D49N (p.Asp49Asn) variant details
- p.Asp49Asn
- gnomAD rs2039118256
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.28
- CADD 22.90
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available