G412E (p.Gly412Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G412E (p.Gly412Glu) 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 not provided; X-linked Alport syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G412E (p.Gly412Glu) variant details
- p.Gly412Glu
- rs104886102
- ClinGen CA413932564
- ClinVar RCV002042672
- ClinVar RCV002283578
- Conflicting interpretations
- not provided; X-linked Alport syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.92
- AlphaMissense 0.82
- MetaLR 0.97
- MetaSVM 1.07
- CADD 23.90
- PolyPhen-2 0.87
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked Alport syndrome; Inborn genetic diseases)
- EBI: Pathogenic (in ATS1)
- UniProt: Pathogenic (in ATS1)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)