P61L (p.Pro61Leu) variant of PRPH2 (Peripherin-2)
P61L (p.Pro61Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- TOPMed rs1761916976
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.83
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available