G1198S (p.Gly1198Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1198S (p.Gly1198Ser) 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; See cases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G1198S (p.Gly1198Ser) variant details
- p.Gly1198Ser
- rs920061910
- ClinGen CA66610381
- ClinVar RCV000681698
- ClinVar RCV002252213
- Pathogenic/Likely pathogenic
- Alport syndrome; See cases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.97
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Alport syndrome; See cases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available