G609C (p.Gly609Cys) variant of COL4A5 (Collagen alpha-5(IV) chain)
G609C (p.Gly609Cys) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes published literature and structural context.
G609C (p.Gly609Cys) variant details
- p.Gly609Cys
- rs104886135
- ClinGen CA413845693
- ClinVar RCV002283728
- Uncertain significance
- X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.984
- AlphaMissense 0.96
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Uncertain significance (X-linked Alport syndrome)
- EBI: Variant of uncertain significance (in ATS1)
- UniProt: Uncertain significance (in ATS1)
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)