L18P (p.Leu18Pro) variant of B2M (Beta-2-microglobulin)
L18P (p.Leu18Pro) in B2M (Beta-2-microglobulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L18P (p.Leu18Pro) variant details
- p.Leu18Pro
- gnomAD 15-44711599-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- MetaLR 0.02
- MetaSVM -1.18
- CADD 31.00
- PolyPhen-2 0.93
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available