L86P (p.Leu86Pro) variant of PRPH2 (Peripherin-2)
L86P (p.Leu86Pro) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
L86P (p.Leu86Pro) variant details
- p.Leu86Pro
- gnomAD 6-42722078-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.37
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available