K80R (p.Lys80Arg) variant of PRPH2 (Peripherin-2)
K80R (p.Lys80Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K80R (p.Lys80Arg) variant details
- p.Lys80Arg
- gnomAD 6-42722096-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.61
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available