G38R (p.Gly38Arg) variant of PRPH2 (Peripherin-2)
G38R (p.Gly38Arg) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- Ensembl rs1761918414
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available