K92R (p.Lys92Arg) variant of PMP22 (Peripheral myelin protein 22)
K92R (p.Lys92Arg) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K92R (p.Lys92Arg) variant details
- p.Lys92Arg
- cosmic curated COSV56602
- TOPMed rs112232836
- gnomAD rs112232836
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.67
- CADD 24.60
- PolyPhen-2 0.96
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available