V68V (p.Val68Val) variant of ATL1 (Atlastin-1)
V68V (p.Val68Val) in ATL1 (Atlastin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
V68V (p.Val68Val) variant details
- p.Val68Val
- rs776429880
- gnomAD 14-50588000-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.11
- CADD 4.21
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available