V70I (p.Val70Ile) variant of ATL1 (Atlastin-1)
V70I (p.Val70Ile) in ATL1 (Atlastin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V70I (p.Val70Ile) variant details
- p.Val70Ile
- ExAC rs761583539
- TOPMed rs761583539
- gnomAD rs761583539
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.07
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.27
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available