D87E (p.Asp87Glu) variant of PRPH2 (Peripherin-2)
D87E (p.Asp87Glu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
D87E (p.Asp87Glu) variant details
- p.Asp87Glu
- gnomAD 6-42722074-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.25
- CADD 16.90
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available