T99S (p.Thr99Ser) variant of PMP22 (Peripheral myelin protein 22)
T99S (p.Thr99Ser) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
T99S (p.Thr99Ser) variant details
- p.Thr99Ser
- gnomAD 17-15239494-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.70
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available