A28S (p.Ala28Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
A28S (p.Ala28Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
A28S (p.Ala28Ser) variant details
- p.Ala28Ser
- rs869025333
- ClinGen CA351668
- ClinVar RCV000207631
- Ensembl rs869025333
- Pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- AlphaMissense 0.30
- MetaLR 0.40
- MetaSVM -0.48
- PolyPhen-2 0.32
- SIFT 0.09
- EVE 0.46
- ClinVar: Pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)