G1198D (p.Gly1198Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1198D (p.Gly1198Asp) 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 Alport syndrome 3b, autosomal recessive; not provided; Autosomal dominant Alport. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1198D (p.Gly1198Asp) variant details
- p.Gly1198Asp
- rs755849032
- ClinGen CA2147306
- ClinVar RCV000991614
- ClinVar RCV003936250
- Pathogenic/Likely pathogenic
- Alport syndrome 3b, autosomal recessive; not provided; Autosomal dominant Alport
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.96
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome 3b, autosomal recessive; not provided; Autosomal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)