S40A (p.Ser40Ala) variant of B2M (Beta-2-microglobulin)
S40A (p.Ser40Ala) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- Ensembl rs2141288566
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- CADD 8.24
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available