G695D (p.Gly695Asp) variant of COL4A4 (Collagen alpha-4(IV) chain)
G695D (p.Gly695Asp) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Alport syndrome; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G695D (p.Gly695Asp) variant details
- p.Gly695Asp
- rs1553644402
- ClinGen CA350842419
- ClinVar RCV000673938
- ClinVar RCV004788105
- Pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- MetaLR 0.99
- MetaSVM 1.00
- CADD 23.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Alport syndrome; Autosomal recessive Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)