K11R (p.Lys11Arg) variant of PRPH2 (Peripherin-2)
K11R (p.Lys11Arg) 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.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- gnomAD rs1212075274
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.15
- CADD 18.50
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available