G1152R (p.Gly1152Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1152R (p.Gly1152Arg) 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; Autosomal recessive Alport syndrome; Autosomal dominant Alport syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G1152R (p.Gly1152Arg) variant details
- p.Gly1152Arg
- rs749383170
- ClinGen CA350858790
- ClinVar RCV000672753
- ClinVar RCV003558519
- Pathogenic/Likely pathogenic
- not provided; Autosomal recessive Alport syndrome; Autosomal dominant Alport syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal recessive Alport syndrome; Autosomal dom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)