S36* (p.Ser36Ter) variant of COL4A5 (Collagen alpha-5(IV) chain)
S36* (p.Ser36Ter) 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 0.52 / 1. The record also includes published literature and structural context.
S36* (p.Ser36Ter) variant details
- p.Ser36Ter
- rs759512115
- ClinGen CA413908691
- ClinVar RCV003337949
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.523
- AlphaMissense 0.11
- MetaLR 0.67
- MetaSVM 0.13
- PolyPhen-2 0.01
- SIFT 0.10
- EVE 0.47
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)