G66R (p.Gly66Arg) variant of PRPH2 (Peripherin-2)
G66R (p.Gly66Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G66R (p.Gly66Arg) variant details
- p.Gly66Arg
- ExAC rs749258271
- gnomAD rs749258271
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.40
- CADD 15.30
- PolyPhen-2 0.16
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available