N59S (p.Asn59Ser) variant of PMP22 (Peripheral myelin protein 22)
N59S (p.Asn59Ser) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N59S (p.Asn59Ser) variant details
- p.Asn59Ser
- ExAC rs779004441
- TOPMed rs779004441
- gnomAD rs779004441
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.17
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available