G883R (p.Gly883Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G883R (p.Gly883Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive; Autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G883R (p.Gly883Arg) variant details
- p.Gly883Arg
- rs1559897288
- ClinGen CA350850872
- ClinVar RCV000681728
- ClinVar RCV005019172
- Likely pathogenic
- Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive; Autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.97
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive COL4A3-related disorders)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)