D49G (p.Asp49Gly) variant of ATL1 (Atlastin-1)
D49G (p.Asp49Gly) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
D49G (p.Asp49Gly) variant details
- p.Asp49Gly
- TOPMed rs1172905535
- gnomAD rs1172905535
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.86
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available