V62A (p.Val62Ala) variant of ATL1 (Atlastin-1)
V62A (p.Val62Ala) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V62A (p.Val62Ala) variant details
- p.Val62Ala
- gnomAD rs2039118968
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.54
- CADD 26.80
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available