F76L (p.Phe76Leu) variant of ATL1 (Atlastin-1)
F76L (p.Phe76Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
F76L (p.Phe76Leu) variant details
- p.Phe76Leu
- gnomAD 14-50588024-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- REVEL 0.67
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available