V67F (p.Val67Phe) variant of ATL1 (Atlastin-1)
V67F (p.Val67Phe) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
V67F (p.Val67Phe) variant details
- p.Val67Phe
- ExAC rs746927118
- gnomAD rs746927118
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available