L1598R (p.Leu1598Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
L1598R (p.Leu1598Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
L1598R (p.Leu1598Arg) variant details
- p.Leu1598Arg
- rs752452590
- ClinGen CA2147656
- ClinVar RCV000665574
- ClinVar RCV000821858
- Pathogenic/Likely pathogenic
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)