G13E (p.Gly13Glu) variant of ATL1 (Atlastin-1)
G13E (p.Gly13Glu) 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 0.38 / 1. The record also includes structural context.
G13E (p.Gly13Glu) variant details
- p.Gly13Glu
- rs2140201659
- ClinGen CA389665134
- cosmic curated COSV63296
- ClinVar RCV003238611
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.70
- PolyPhen-2 0.16
- SIFT 0.02
- MutPred 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available