T91A (p.Thr91Ala) variant of PMP22 (Peripheral myelin protein 22)
T91A (p.Thr91Ala) in PMP22 (Peripheral myelin protein 22) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T91A (p.Thr91Ala) variant details
- p.Thr91Ala
- Ensembl rs1567704762
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.19
- CADD 22.20
- PolyPhen-2 0.03
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available