D7N (p.Asp7Asn) variant of ATL1 (Atlastin-1)
D7N (p.Asp7Asn) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- rs2038819987
- ClinGen CA389659765
- ClinVar RCV001773983
- TOPMed rs2038819987
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- AlphaMissense 0.13
- MetaLR 0.44
- MetaSVM -0.07
- PolyPhen-2 0.98
- SIFT 0.05
- MutPred 0.15
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available