T22A (p.Thr22Ala) variant of PLP1 (Myelin proteolipid protein)
T22A (p.Thr22Ala) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- TOPMed rs937672540
- gnomAD rs937672540
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- AlphaMissense 0.79
- MetaLR 0.97
- MetaSVM 1.08
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available