L58F (p.Leu58Phe) variant of ATL1 (Atlastin-1)
L58F (p.Leu58Phe) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- gnomAD rs1351467376
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.54
- CADD 25.10
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available