G777D (p.Gly777Asp) variant of COL4A3 (Collagen alpha-3(IV) chain)
G777D (p.Gly777Asp) 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 not provided; Autosomal dominant Alport syndrome; Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G777D (p.Gly777Asp) variant details
- p.Gly777Asp
- rs2106151987
- ClinGen CA350849250
- ClinVar RCV002272123
- ClinVar RCV003560912
- Pathogenic/Likely pathogenic
- not provided; Autosomal dominant Alport syndrome; Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.99
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Autosomal dominant Alport syndrome; Alport syndrom)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)