G1106D (p.Gly1106Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1106D (p.Gly1106Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1106D (p.Gly1106Asp) variant details
- p.Gly1106Asp
- rs1559482299
- ClinGen CA350838544
- ClinVar RCV000710845
- ClinVar RCV004737972
- Conflicting interpretations
- Hematuria, benign familial, 1; Autosomal recessive Alport syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.97
- AlphaMissense 0.79
- MetaLR 0.99
- MetaSVM 1.00
- CADD 23.70
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hematuria, benign familial, 1; Autosomal recessive Alport syndro)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)