G638S (p.Gly638Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G638S (p.Gly638Ser) 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 not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
G638S (p.Gly638Ser) variant details
- p.Gly638Ser
- rs104886147
- ClinGen CA258573
- ClinVar RCV000021340
- ClinVar RCV005638405
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.946
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.99
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Structural context available
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)
- Cited in: Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and… (PMID 10561141)