G870R (p.Gly870Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G870R (p.Gly870Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G870R (p.Gly870Arg) variant details
- p.Gly870Arg
- Ensembl rs2150235414
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available