G1170C (p.Gly1170Cys) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1170C (p.Gly1170Cys) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; X-linked Alport syndrome. 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.
G1170C (p.Gly1170Cys) variant details
- p.Gly1170Cys
- rs104886237
- ClinGen CA413847771
- ClinVar RCV002045191
- ClinVar RCV006249803
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.97
- CADD 25.90
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)