G1066S (p.Gly1066Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1066S (p.Gly1066Ser) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
G1066S (p.Gly1066Ser) variant details
- p.Gly1066Ser
- rs104886219
- ClinGen CA258827
- ClinVar RCV000021482
- ClinVar RCV000710872
- Pathogenic
- not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.884
- REVEL 0.99
- AlphaMissense 0.75
- MetaLR 0.99
- MetaSVM 0.95
- CADD 26.30
- PolyPhen-2 1.00
- ClinVar: Pathogenic (not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Population evidence available
- Structural context available
- Cited in: High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA… (PMID 9848783)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)