L13F (p.Leu13Phe) variant of B2M (Beta-2-microglobulin)
L13F (p.Leu13Phe) 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 Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- gnomAD rs1356237470
- cosmic curated COSV62565
- Uncertain significance
- Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- MetaLR 0.01
- MetaSVM -0.90
- CADD 10.10
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Amyloidosis, hereditary systemic 6; Hypoproteinemia, hypercatabo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available