P34L (p.Pro34Leu) variant of B2M (Beta-2-microglobulin)
P34L (p.Pro34Leu) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P34L (p.Pro34Leu) variant details
- p.Pro34Leu
- gnomAD rs1261957968
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 25.30
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available