G43W (p.Gly43Trp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G43W (p.Gly43Trp) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autosomal dominant Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G43W (p.Gly43Trp) variant details
- p.Gly43Trp
- 1000Genomes rs13424243
- ESP rs13424243
- ExAC rs13424243
- TOPMed rs13424243
- Uncertain significance
- Autosomal dominant Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.46
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Autosomal dominant Alport syndrome)
- EBI: Benign (in dbSNP:rs13424243)
- UniProt: Benign (in dbSNP:rs13424243)
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available