G12S (p.Gly12Ser) variant of ATL1 (Atlastin-1)
G12S (p.Gly12Ser) in ATL1 (Atlastin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 14-50560299-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.10
- CADD 25.10
- PolyPhen-2 0.07
- SIFT 0.23
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available