R130P (p.Arg130Pro) variant of COL5A2 (Collagen alpha-2(V) chain)
R130P (p.Arg130Pro) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes structural context.
R130P (p.Arg130Pro) variant details
- p.Arg130Pro
- ESP rs377331666
- ExAC rs377331666
- TOPMed rs377331666
- gnomAD rs377331666
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Structural context available