I65T (p.Ile65Thr) variant of PLP1 (Myelin proteolipid protein)
I65T (p.Ile65Thr) in PLP1 (Myelin proteolipid protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
I65T (p.Ile65Thr) variant details
- p.Ile65Thr
- gnomAD rs1191076247
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- AlphaMissense 0.94
- MetaLR 0.98
- MetaSVM 1.06
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available