T75I (p.Thr75Ile) variant of PLP1 (Myelin proteolipid protein)
T75I (p.Thr75Ile) in PLP1 (Myelin proteolipid protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
T75I (p.Thr75Ile) variant details
- p.Thr75Ile
- gnomAD X-103786497-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 16.30
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available