G897E (p.Gly897Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
G897E (p.Gly897Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
G897E (p.Gly897Glu) variant details
- p.Gly897Glu
- rs121912860
- ClinGen CA127186
- ClinVar RCV000018949
- ClinVar RCV000666567
- Pathogenic/Likely pathogenic
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.832
- REVEL 0.90
- MetaLR 0.99
- MetaSVM 0.95
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Pathogenic (in BFH1)
- UniProt: Pathogenic (in BFH1)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. (PMID 8787673)
- Cited in: Alport Syndrome. (PMID 20301386)