L85H (p.Leu85His) variant of PLP1 (Myelin proteolipid protein)
L85H (p.Leu85His) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
L85H (p.Leu85His) variant details
- p.Leu85His
- rs2074498206
- ClinGen CA414102536
- ClinVar RCV001288681
- Ensembl rs2074498206
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available