N32S (p.Asn32Ser) variant of PMP22 (Peripheral myelin protein 22)
N32S (p.Asn32Ser) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N32S (p.Asn32Ser) variant details
- p.Asn32Ser
- ESP rs373322590
- ExAC rs373322590
- TOPMed rs373322590
- gnomAD rs373322590
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.14
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available