M1I (p.Met1Ile) variant of PLP1 (Myelin proteolipid protein)
M1I (p.Met1Ile) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs132630290
- ClinGen CA121352
- ClinVar RCV000011836
- ClinVar RCV001851799
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- MetaLR 0.93
- MetaSVM 0.93
- PolyPhen-2 0.00
- SIFT 0.03
- MutPred 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of… (PMID 8786077)
- Cited in: PLP1-Related Disorders. (PMID 20301361)