T41I (p.Thr41Ile) variant of PLP1 (Myelin proteolipid protein)
T41I (p.Thr41Ile) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
T41I (p.Thr41Ile) variant details
- p.Thr41Ile
- ExAC rs747978554
- TOPMed rs747978554
- gnomAD rs747978554
- Likely benign
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- CADD 22.60
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available