F86L (p.Phe86Leu) variant of ATL1 (Atlastin-1)
F86L (p.Phe86Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
F86L (p.Phe86Leu) variant details
- p.Phe86Leu
- TOPMed rs2039119846
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.51
- CADD 28.20
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available