A2V (p.Ala2Val) variant of ATL1 (Atlastin-1)
A2V (p.Ala2Val) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- gnomAD 14-50560270-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.09
- SIFT 0.24
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available