P58T (p.Pro58Thr) variant of PMP22 (Peripheral myelin protein 22)
P58T (p.Pro58Thr) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P58T (p.Pro58Thr) variant details
- p.Pro58Thr
- gnomAD 17-15239580-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- CADD 9.57
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available