K11* (p.Lys11Ter) variant of PRPH2 (Peripherin-2)
K11* (p.Lys11Ter) in PRPH2 (Peripherin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K11* (p.Lys11Ter) variant details
- p.Lys11Ter
- ExAC rs775176959
- gnomAD rs775176959
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.707
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available