D84D (p.Asp84Asp) variant of PRPH2 (Peripherin-2)
D84D (p.Asp84Asp) 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.
D84D (p.Asp84Asp) variant details
- p.Asp84Asp
- rs139936445
- gnomAD 6-42722083-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0808
- CADD 0.02
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available
- Literature evidence available