G1229S (p.Gly1229Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1229S (p.Gly1229Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of COL4A5-related disorder; 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 population frequency data, published literature, and structural context.
G1229S (p.Gly1229Ser) variant details
- p.Gly1229Ser
- rs1569505771
- ClinGen CA413848729
- cosmic curated COSV60369
- ClinVar RCV000681871
- Pathogenic
- COL4A5-related disorder; not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.97
- AlphaMissense 0.52
- MetaLR 0.99
- MetaSVM 1.00
- CADD 26.80
- PolyPhen-2 1.00
- ClinVar: Pathogenic (COL4A5-related disorder; 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)