R4Q (p.Arg4Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
R4Q (p.Arg4Gln) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Autosomal dominant Alport syndrome; Hematuria, benign f. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- rs921905047
- ClinGen CA66565365
- ClinVar RCV001758293
- ClinVar RCV004785297
- Uncertain significance
- Inborn genetic diseases; Autosomal dominant Alport syndrome; Hematuria, benign f
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.16
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases; Autosomal dominant Alport syndrome; Hem)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00037)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)