A17T (p.Ala17Thr) variant of PLP1 (Myelin proteolipid protein)
A17T (p.Ala17Thr) 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 specified; not provided; Pelizaeus-Merzbacher disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs797045890
- ClinGen CA205100
- ClinVar RCV000192345
- ClinVar RCV001197987
- Uncertain significance
- not specified; not provided; Pelizaeus-Merzbacher disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified; not provided; Pelizaeus-Merzbacher disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: PLP1-Related Disorders. (PMID 20301361)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)