T22P (p.Thr22Pro) variant of PLP1 (Myelin proteolipid protein)
T22P (p.Thr22Pro) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
T22P (p.Thr22Pro) variant details
- p.Thr22Pro
- rs937672540
- ClinGen CA414101931
- ClinVar RCV002214546
- TOPMed rs937672540
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 0.94
- SIFT 0.06
- EVE 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available