G314C (p.Gly314Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G314C (p.Gly314Cys) 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; Benign familial hematuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
G314C (p.Gly314Cys) variant details
- p.Gly314Cys
- rs2475551311
- ClinGen CA350856343
- ClinVar RCV006255898
- Likely pathogenic
- Autosomal recessive Alport syndrome; Benign familial hematuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.925
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal recessive Alport syndrome; Benign familial hematuria)
- EBI: Likely pathogenic
- UniProt: Likely 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)