G161R (p.Gly161Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G161R (p.Gly161Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G161R (p.Gly161Arg) variant details
- p.Gly161Arg
- rs755961411
- ClinGen CA2145657
- ClinVar RCV000786897
- ClinVar RCV001873205
- Conflicting interpretations
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.874
- REVEL 0.95
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)