V70V (p.Val70Val) variant of ATL1 (Atlastin-1)
V70V (p.Val70Val) 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.
V70V (p.Val70Val) variant details
- p.Val70Val
- gnomAD 14-50588006-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.64
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available