M52R (p.Met52Arg) variant of PRPH2 (Peripherin-2)
M52R (p.Met52Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M52R (p.Met52Arg) variant details
- p.Met52Arg
- TOPMed rs1314045039
- gnomAD rs1314045039
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.89
- CADD 26.60
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available