W2* (p.Trp2Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
W2* (p.Trp2Ter) in COL4A4 (Collagen alpha-4(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 0.39 / 1. The record also includes structural context.
W2* (p.Trp2Ter) variant details
- p.Trp2Ter
- rs1382380215
- ClinGen CA350842881
- ClinVar RCV002037697
- NCI-TCGA TCGA novel
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.388
- AlphaMissense 0.14
- MetaLR 0.35
- MetaSVM -0.78
- PolyPhen-2 0.00
- SIFT 0.13
- MutPred 0.56
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available