S7N (p.Ser7Asn) variant of PMP22 (Peripheral myelin protein 22)
S7N (p.Ser7Asn) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- gnomAD rs1268254887
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.10
- Population evidence available
- Structural context available