D87Q (p.Asp87Gln) variant of PRPH2 (Peripherin-2)
D87Q (p.Asp87Gln) in PRPH2 (Peripherin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
D87Q (p.Asp87Gln) variant details
- p.Asp87Gln
- rs1554270834
- gnomAD 6-42722068-GGCTGG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available