S14C (p.Ser14Cys) variant of B2M (Beta-2-microglobulin)
S14C (p.Ser14Cys) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from ClinVar 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 0.14 / 1. The record also includes population frequency data and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD rs986783978
- Uncertain significance
- Hypoproteinemia, hypercatabolic
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- AlphaMissense 0.13
- MetaLR 0.00
- MetaSVM -0.92
- CADD 1.44
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Hypoproteinemia, hypercatabolic)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available