D49A (p.Asp49Ala) variant of ATL1 (Atlastin-1)
D49A (p.Asp49Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D49A (p.Asp49Ala) variant details
- p.Asp49Ala
- gnomAD 14-50587942-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.87
- CADD 27.30
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available