P100P (p.Pro100Pro) variant of PRPH2 (Peripherin-2)
P100P (p.Pro100Pro) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P100P (p.Pro100Pro) variant details
- p.Pro100Pro
- rs150695654
- gnomAD 6-42722035-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0848
- CADD 0.59
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available
- Literature evidence available