F82L (p.Phe82Leu) variant of ATL1 (Atlastin-1)
F82L (p.Phe82Leu) in ATL1 (Atlastin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
F82L (p.Phe82Leu) variant details
- p.Phe82Leu
- TOPMed rs1350735934
- gnomAD rs1350735934
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.80
- CADD 22.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available