G814E (p.Gly814Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G814E (p.Gly814Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
G814E (p.Gly814Glu) variant details
- p.Gly814Glu
- rs2066899797
- ClinGen CA413849911
- ClinVar RCV001322975
- ClinVar RCV006605333
- Uncertain significance
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Uncertain significance (not provided; X-linked Alport syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)