L70L (p.Leu70Leu) variant of PRPH2 (Peripherin-2)
L70L (p.Leu70Leu) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L70L (p.Leu70Leu) variant details
- p.Leu70Leu
- gnomAD 6-42722125-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 10.50
- Population evidence available
- Structural context available
- Literature evidence available