G1030S (p.Gly1030Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1030S (p.Gly1030Ser) 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; Alport syndrome; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G1030S (p.Gly1030Ser) variant details
- p.Gly1030Ser
- rs104886210
- ClinGen CA258803
- NCI-TCGA Cosmic COSV1000
- ClinVar RCV001387178
- Pathogenic/Likely pathogenic
- not provided; Alport syndrome; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.98
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Alport syndrome; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the East Asian population (allele frequency 3.3e-05)
- 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)