G1045V (p.Gly1045Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G1045V (p.Gly1045Val) 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 Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1045V (p.Gly1045Val) variant details
- p.Gly1045Val
- rs2072649241
- ClinGen CA350855670
- ClinVar RCV001208756
- ClinVar RCV002497715
- Pathogenic/Likely pathogenic
- Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.895
- REVEL 0.96
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal dominant Alport syndrome; Autosomal recessive Alport s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)