E46* (p.Glu46Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
E46* (p.Glu46Ter) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes structural context.
E46* (p.Glu46Ter) variant details
- p.Glu46Ter
- rs762399773
- ClinGen CA413908906
- ClinVar RCV001381885
- ExAC rs762399773
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.563
- AlphaMissense 0.15
- MetaLR 0.66
- MetaSVM 0.16
- PolyPhen-2 0.41
- SIFT 0.08
- EVE 0.58
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available