G1228R (p.Gly1228Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1228R (p.Gly1228Arg) 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 Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G1228R (p.Gly1228Arg) variant details
- p.Gly1228Arg
- rs1559913871
- ClinGen CA350860281
- ClinVar RCV000761269
- ClinVar RCV002500988
- Likely pathogenic
- Benign familial hematuria; Autosomal dominant Alport syndrome; Autosomal recessi
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.74
- MetaLR 0.99
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Likely pathogenic (Benign familial hematuria; Autosomal dominant Alport syndrome; A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)