S64T (p.Ser64Thr) variant of PMP22 (Peripheral myelin protein 22)
S64T (p.Ser64Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
S64T (p.Ser64Thr) variant details
- p.Ser64Thr
- gnomAD 17-15239600-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.41
- CADD 23.30
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available