G1230C (p.Gly1230Cys) variant of COL4A4 (Collagen alpha-4(IV) chain)
G1230C (p.Gly1230Cys) 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 Alport syndrome; Autosomal recessive Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G1230C (p.Gly1230Cys) variant details
- p.Gly1230Cys
- rs781360383
- ClinGen CA350837755
- ClinVar RCV001281123
- ClinVar RCV005634001
- Likely pathogenic
- Alport syndrome; Autosomal recessive Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.858
- REVEL 0.87
- MetaLR 0.99
- MetaSVM 1.00
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Alport syndrome; Autosomal recessive Alport syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)