L98L (p.Leu98Leu) variant of PRPH2 (Peripherin-2)
L98L (p.Leu98Leu) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L98L (p.Leu98Leu) variant details
- p.Leu98Leu
- rs1408236355
- gnomAD 6-42722041-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.322
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available