Q22Q (p.Gln22Gln) variant of B2M (Beta-2-microglobulin)
Q22Q (p.Gln22Gln) in B2M (Beta-2-microglobulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
Q22Q (p.Gln22Gln) variant details
- p.Gln22Gln
- rs745772508
- gnomAD 15-44711612-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.49
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available