K95K (p.Lys95Lys) variant of PRPH2 (Peripherin-2)
K95K (p.Lys95Lys) in PRPH2 (Peripherin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
K95K (p.Lys95Lys) variant details
- p.Lys95Lys
- gnomAD 6-42722050-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 9.47
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available