R93G (p.Arg93Gly) variant of PRPH2 (Peripherin-2)
R93G (p.Arg93Gly) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R93G (p.Arg93Gly) variant details
- p.Arg93Gly
- TOPMed rs1761914004
- gnomAD rs1761914004
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available