G1080R (p.Gly1080Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1080R (p.Gly1080Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G1080R (p.Gly1080Arg) variant details
- p.Gly1080Arg
- rs1267839034
- ClinGen CA350857302
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV001946764
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.909
- REVEL 0.99
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available