G1170S (p.Gly1170Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
G1170S (p.Gly1170Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; X-linked Alport syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G1170S (p.Gly1170Ser) variant details
- p.Gly1170Ser
- rs104886237
- ClinGen CA258878
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10008
- Conflicting interpretations
- Inborn genetic diseases; not provided; X-linked Alport syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.98
- AlphaMissense 0.92
- MetaLR 0.99
- MetaSVM 0.97
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; X-linked Alport syndrome)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- 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)
- Cited in: Detection of mutations in COL4A5 in patients with Alport syndrome. (PMID 10094548)