G1152S (p.Gly1152Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1152S (p.Gly1152Ser) in COL4A3 (Collagen alpha-3(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 dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G1152S (p.Gly1152Ser) variant details
- p.Gly1152Ser
- rs749383170
- ClinGen CA2147253
- ClinVar RCV004545952
- ClinVar RCV005618359
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.98
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.98
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)