G1207E (p.Gly1207Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1207E (p.Gly1207Glu) 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 Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G1207E (p.Gly1207Glu) variant details
- p.Gly1207Glu
- rs1553764136
- ClinGen CA350860023
- ClinVar RCV000518270
- ClinVar RCV002496993
- Pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.73
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Pathogenic (in ATS3B)
- UniProt: Pathogenic (in ATS3B)
- 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)