R1563Q (p.Arg1563Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
R1563Q (p.Arg1563Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Kidney disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
R1563Q (p.Arg1563Gln) variant details
- p.Arg1563Gln
- rs281874743
- ClinGen CA259087
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV000021636
- Pathogenic/Likely pathogenic
- Kidney disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic/Likely pathogenic (Kidney disorder; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. (PMID 8406498)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)