G889V (p.Gly889Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G889V (p.Gly889Val) in COL4A3 (Collagen alpha-3(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 dominant Alport syndrome. 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.
G889V (p.Gly889Val) variant details
- p.Gly889Val
- rs2469779404
- ClinGen CA350851066
- ClinVar RCV003991303
- Likely pathogenic
- Alport syndrome; Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal dominant Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)