V70E (p.Val70Glu) variant of ATL1 (Atlastin-1)
V70E (p.Val70Glu) 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 0.73 / 1. The record also includes structural context.
V70E (p.Val70Glu) variant details
- p.Val70Glu
- rs2140201941
- ClinGen CA389665835
- ClinVar RCV001754485
- Ensembl rs2140201941
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- AlphaMissense 1.00
- MetaLR 0.60
- MetaSVM 0.37
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available