G213E (p.Gly213Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G213E (p.Gly213Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of X-linked Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G213E (p.Gly213Glu) variant details
- p.Gly213Glu
- rs104886066
- ClinGen CA258296
- ClinVar RCV003066362
- ClinVar RCV003152810
- Likely pathogenic
- X-linked Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.986
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (X-linked Alport syndrome; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)