D42A (p.Asp42Ala) variant of ATL1 (Atlastin-1)
D42A (p.Asp42Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D42A (p.Asp42Ala) variant details
- p.Asp42Ala
- gnomAD 14-50587921-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available