G48R (p.Gly48Arg) variant of COL4A4 (Collagen alpha-4(IV) chain)
G48R (p.Gly48Arg) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- rs2476902793
- ClinGen CA350866463
- ClinVar RCV003225401
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available