G336C (p.Gly336Cys) variant of COL4A3 (Collagen alpha-3(IV) chain)
G336C (p.Gly336Cys) 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 Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi. 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.
G336C (p.Gly336Cys) variant details
- p.Gly336Cys
- rs1559873550
- ClinGen CA350867528
- NCI-TCGA Cosmic COSV1011
- ClinVar RCV000681935
- Pathogenic/Likely pathogenic
- Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- REVEL 0.98
- AlphaMissense 0.62
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.60
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Benign familial hematuria; Autosomal dominant Alport syndrome; A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)