A2A (p.Ala2Ala) variant of ATL1 (Atlastin-1)
A2A (p.Ala2Ala) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- gnomAD 14-50560271-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 15.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available