A73V (p.Ala73Val) variant of ATL1 (Atlastin-1)
A73V (p.Ala73Val) in ATL1 (Atlastin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ATL1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
A73V (p.Ala73Val) variant details
- p.Ala73Val
- rs951568761
- ClinGen CA260772439
- ClinVar RCV003397779
- Ensembl rs951568761
- Uncertain significance
- ATL1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.95
- MetaLR 0.28
- MetaSVM -0.79
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.57
- ClinVar: Uncertain significance (ATL1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available