L13P (p.Leu13Pro) variant of B2M (Beta-2-microglobulin)
L13P (p.Leu13Pro) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs752758095
- 1000Genomes rs752758095
- ExAC rs752758095
- gnomAD rs752758095
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- MetaLR 0.01
- MetaSVM -1.01
- CADD 22.30
- PolyPhen-2 0.47
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available