T99P (p.Thr99Pro) variant of PMP22 (Peripheral myelin protein 22)
T99P (p.Thr99Pro) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
T99P (p.Thr99Pro) variant details
- p.Thr99Pro
- ExAC rs777109239
- TOPMed rs777109239
- gnomAD rs777109239
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.95
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available