A14T (p.Ala14Thr) variant of PMP22 (Peripheral myelin protein 22)
A14T (p.Ala14Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- TOPMed rs1909247211
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.29
- CADD 22.20
- PolyPhen-2 0.14
- SIFT 1.00
- Population evidence available
- Structural context available