P28S (p.Pro28Ser) variant of ATL1 (Atlastin-1)
P28S (p.Pro28Ser) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- gnomAD 14-50587877-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 25.70
- Population evidence available
- Structural context available
- Literature evidence available