A75P (p.Ala75Pro) variant of ATL1 (Atlastin-1)
A75P (p.Ala75Pro) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A75P (p.Ala75Pro) variant details
- p.Ala75Pro
- gnomAD 14-50588019-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.47
- CADD 27.60
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available