V72I (p.Val72Ile) variant of ATL1 (Atlastin-1)
V72I (p.Val72Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- ExAC rs766627863
- gnomAD rs766627863
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.24
- CADD 25.90
- PolyPhen-2 0.85
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available