G650S (p.Gly650Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G650S (p.Gly650Ser) 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 0.88 / 1. The record also includes published literature and structural context.
G650S (p.Gly650Ser) variant details
- p.Gly650Ser
- rs1569494393
- ClinGen CA413845959
- ClinVar RCV001384769
- ClinVar RCV005870817
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.882
- AlphaMissense 0.61
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alport Syndrome. (PMID 20301386)
- Cited in: Clinical utility gene card for: Alport syndrome. (PMID 22166944)