G98S (p.Gly98Ser) variant of COL4A4 (Collagen alpha-4(IV) chain)
G98S (p.Gly98Ser) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G98S (p.Gly98Ser) variant details
- p.Gly98Ser
- ExAC rs780323761
- TOPMed rs780323761
- gnomAD rs780323761
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome; Hematuria, benign familial
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome; Hematuria,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available