V62L (p.Val62Leu) variant of ATL1 (Atlastin-1)
V62L (p.Val62Leu) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V62L (p.Val62Leu) variant details
- p.Val62Leu
- gnomAD 14-50587980-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.34
- CADD 23.20
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available