T99A (p.Thr99Ala) variant of PMP22 (Peripheral myelin protein 22)
T99A (p.Thr99Ala) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
T99A (p.Thr99Ala) variant details
- p.Thr99Ala
- gnomAD 17-15239495-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.88
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available