G45E (p.Gly45Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G45E (p.Gly45Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
G45E (p.Gly45Glu) variant details
- p.Gly45Glu
- rs2524082406
- ClinGen CA413908902
- ClinVar RCV002632458
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.92
- MetaLR 0.96
- MetaSVM 1.09
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available