G918R (p.Gly918Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G918R (p.Gly918Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Alport syndrome; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G918R (p.Gly918Arg) variant details
- p.Gly918Arg
- rs372606845
- ClinGen CA2144722
- NCI-TCGA Cosmic COSV6163
- ClinVar RCV001328134
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.914
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 1.02
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Alport syndrome; Autosomal recessive Al)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)