G98D (p.Gly98Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G98D (p.Gly98Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
G98D (p.Gly98Asp) variant details
- p.Gly98Asp
- Ensembl rs2061753889
- Likely pathogenic
- Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.92
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available