G1143S (p.Gly1143Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1143S (p.Gly1143Ser) 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 population frequency data, published literature, and structural context.
G1143S (p.Gly1143Ser) variant details
- p.Gly1143Ser
- rs104886228
- ClinGen CA258865
- ClinVar RCV000021509
- ClinVar RCV000681895
- Pathogenic/Likely pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.99
- AlphaMissense 0.42
- MetaLR 0.99
- MetaSVM 1.02
- CADD 26.30
- 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 Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain. (PMID 7969679)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)