T18N (p.Thr18Asn) variant of ATL1 (Atlastin-1)
T18N (p.Thr18Asn) in ATL1 (Atlastin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
T18N (p.Thr18Asn) variant details
- p.Thr18Asn
- gnomAD 14-50587848-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.256
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available