E60E (p.Glu60Glu) variant of PMP22 (Peripheral myelin protein 22)
E60E (p.Glu60Glu) in PMP22 (Peripheral myelin protein 22) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E60E (p.Glu60Glu) variant details
- p.Glu60Glu
- rs1223037928
- gnomAD 17-15239610-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 15.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available