V6L (p.Val6Leu) variant of PRPH2 (Peripherin-2)
V6L (p.Val6Leu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V6L (p.Val6Leu) variant details
- p.Val6Leu
- TOPMed rs1223107400
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.03
- CADD 15.90
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available