L18V (p.Leu18Val) variant of B2M (Beta-2-microglobulin)
L18V (p.Leu18Val) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypoproteinemia, hypercatabolic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- rs2141284625
- ClinGen CA392232221
- ClinVar RCV002893947
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- AlphaMissense 0.11
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 1.00
- SIFT 0.02
- MutPred 0.33
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available