V67I (p.Val67Ile) variant of ATL1 (Atlastin-1)
V67I (p.Val67Ile) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V67I (p.Val67Ile) variant details
- p.Val67Ile
- gnomAD 14-50587995-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.41
- CADD 22.40
- PolyPhen-2 0.39
- SIFT 0.18
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available