G199R (p.Gly199Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G199R (p.Gly199Arg) 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 Hematuria, benign familial, 1; Inborn genetic diseases; Autosomal recessive Alpo. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G199R (p.Gly199Arg) variant details
- p.Gly199Arg
- ExAC rs750345987
- gnomAD rs750345987
- Conflicting interpretations
- Hematuria, benign familial, 1; Inborn genetic diseases; Autosomal recessive Alpo
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.97
- AlphaMissense 0.74
- MetaLR 0.99
- MetaSVM 1.00
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hematuria, benign familial, 1; Inborn genetic diseases; Autosoma)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available