D43V (p.Asp43Val) variant of ATL1 (Atlastin-1)
D43V (p.Asp43Val) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D43V (p.Asp43Val) variant details
- p.Asp43Val
- gnomAD rs1317806619
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.63
- CADD 26.60
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available