G325R (p.Gly325Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
G325R (p.Gly325Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G325R (p.Gly325Arg) variant details
- p.Gly325Arg
- rs104886088
- ClinGen CA413927642
- ClinVar RCV000995729
- Ensembl rs104886088
- Pathogenic
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.99
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PMID 11223851)
- Cited in: Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome… (PMID 1376965)