G45R (p.Gly45Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G45R (p.Gly45Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G45R (p.Gly45Arg) variant details
- p.Gly45Arg
- ExAC rs753016038
- TOPMed rs753016038
- gnomAD rs753016038
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.34
- CADD 18.90
- PolyPhen-2 0.45
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available