K92E (p.Lys92Glu) variant of PMP22 (Peripheral myelin protein 22)
K92E (p.Lys92Glu) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
K92E (p.Lys92Glu) variant details
- p.Lys92Glu
- cosmic curated COSV56602
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.76
- CADD 27.50
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available