V29L (p.Val29Leu) variant of ATL1 (Atlastin-1)
V29L (p.Val29Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V29L (p.Val29Leu) variant details
- p.Val29Leu
- ExAC rs755019483
- gnomAD rs755019483
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.10
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.86
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available