G997E (p.Gly997Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G997E (p.Gly997Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal recessive Alport syndrome; Autosomal dominant Alport syndrome; Hematur. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G997E (p.Gly997Glu) variant details
- p.Gly997Glu
- rs1553762113
- ClinGen CA350854767
- ClinVar RCV000667045
- ClinVar RCV001226651
- Pathogenic/Likely pathogenic
- Autosomal recessive Alport syndrome; Autosomal dominant Alport syndrome; Hematur
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.99
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive Alport syndrome; Autosomal dominant Alport s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)