L31V (p.Leu31Val) variant of PLP1 (Myelin proteolipid protein)
L31V (p.Leu31Val) 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 specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
L31V (p.Leu31Val) variant details
- p.Leu31Val
- rs1391989749
- ClinGen CA414102027
- ClinVar RCV003238608
- ClinVar RCV005432792
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- AlphaMissense 0.36
- MetaLR 0.98
- MetaSVM 1.09
- PolyPhen-2 0.94
- SIFT 0.11
- EVE 0.47
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance (in HLD1)
- UniProt: Uncertain significance (in HLD1)
- Structural context available