R4S (p.Arg4Ser) variant of COL4A5 (Collagen alpha-5(IV) chain)
R4S (p.Arg4Ser) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
R4S (p.Arg4Ser) variant details
- p.Arg4Ser
- rs2523832601
- ClinVar RCV004587780
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available