D85A (p.Asp85Ala) variant of ATL1 (Atlastin-1)
D85A (p.Asp85Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D85A (p.Asp85Ala) variant details
- p.Asp85Ala
- gnomAD 14-50588050-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.70
- CADD 28.20
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available