G1152D (p.Gly1152Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1152D (p.Gly1152Asp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
G1152D (p.Gly1152Asp) variant details
- p.Gly1152Asp
- rs867868120
- ClinGen CA66609010
- ClinVar RCV003863583
- ClinVar RCV005030336
- Conflicting interpretations
- Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.959
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Conflicting classifications of pathogenicity (Autosomal dominant Alport syndrome; Hematuria, benign familial,)
- 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)