G1334E (p.Gly1334Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1334E (p.Gly1334Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alport syndrome 3b, autosomal recessive; not provided; Autosomal dominant Alport. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G1334E (p.Gly1334Glu) variant details
- p.Gly1334Glu
- rs375290088
- ClinGen CA2147419
- ClinVar RCV001950918
- ClinVar RCV002271709
- Pathogenic
- Alport syndrome 3b, autosomal recessive; not provided; Autosomal dominant Alport
- Missense
- Variant Prioritization Score for Impact Estimate 0.921
- REVEL 1.00
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Alport syndrome 3b, autosomal recessive; not provided; Autosomal)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. (PMID 11134255)
- Cited in: Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (PMID 15954103)