D84Y (p.Asp84Tyr) variant of PRPH2 (Peripherin-2)
D84Y (p.Asp84Tyr) 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, published literature, and structural context.
D84Y (p.Asp84Tyr) variant details
- p.Asp84Tyr
- gnomAD 6-42722085-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.79
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available