G695R (p.Gly695Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
G695R (p.Gly695Arg) 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 specified; Autosomal recessive Alport syndrome; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
G695R (p.Gly695Arg) variant details
- p.Gly695Arg
- rs200287952
- ClinGen CA2146849
- ClinVar RCV000408794
- ClinVar RCV001001294
- Pathogenic/Likely pathogenic
- not specified; Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.96
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not specified; Autosomal recessive Alport syndrome; Benign famil)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00024)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)