G202D (p.Gly202Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G202D (p.Gly202Asp) 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 Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
G202D (p.Gly202Asp) variant details
- p.Gly202Asp
- TOPMed rs1357694989
- gnomAD rs1357694989
- Conflicting interpretations
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.95
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available