K95R (p.Lys95Arg) variant of PRPH2 (Peripherin-2)
K95R (p.Lys95Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K95R (p.Lys95Arg) variant details
- p.Lys95Arg
- gnomAD 6-42722051-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.21
- MetaLR 0.19
- MetaSVM -0.87
- CADD 18.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available