L12P (p.Leu12Pro) variant of B2M (Beta-2-microglobulin)
L12P (p.Leu12Pro) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- Ensembl rs2141284555
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62563
- Uncertain significance
- Neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- MetaLR 0.03
- MetaSVM -1.04
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Neoplasm)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available