K92K (p.Lys92Lys) variant of PMP22 (Peripheral myelin protein 22)
K92K (p.Lys92Lys) in PMP22 (Peripheral myelin protein 22) is a synonymous 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.
K92K (p.Lys92Lys) variant details
- p.Lys92Lys
- gnomAD 17-15239439-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 0.78
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available