R93K (p.Arg93Lys) variant of PRPH2 (Peripherin-2)
R93K (p.Arg93Lys) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R93K (p.Arg93Lys) variant details
- p.Arg93Lys
- Ensembl rs1761913965
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.27
- CADD 9.16
- PolyPhen-2 0.00
- SIFT 0.64
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available