G91D (p.Gly91Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G91D (p.Gly91Asp) 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; Alport syndrome; Alport syndrome 3b, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G91D (p.Gly91Asp) variant details
- p.Gly91Asp
- rs1414411811
- ClinGen CA350860670
- ClinVar RCV001366917
- ClinVar RCV001826053
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome; Alport syndrome 3b, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.93
- AlphaMissense 0.90
- MetaLR 0.99
- MetaSVM 1.01
- CADD 26.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome; Alport syndrome 3b, autosomal rec)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available