G551D (p.Gly551Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G551D (p.Gly551Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr. 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.
G551D (p.Gly551Asp) variant details
- p.Gly551Asp
- rs2059360185
- ClinGen CA350847820
- ClinVar RCV001328132
- ClinVar RCV003994250
- Likely pathogenic
- Autosomal recessive Alport syndrome; Hematuria, benign familial, 1; Alport syndr
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- MetaLR 0.99
- MetaSVM 0.96
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Hematuria, benign familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)