L7S (p.Leu7Ser) variant of B2M (Beta-2-microglobulin)
L7S (p.Leu7Ser) in B2M (Beta-2-microglobulin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L7S (p.Leu7Ser) variant details
- p.Leu7Ser
- NCI-TCGA Cosmic COSV1008
- NCI-TCGA Cosmic COSV6256
- cosmic curated COSV62565
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- AlphaMissense 0.29
- MetaLR 0.01
- MetaSVM -0.94
- CADD 18.40
- PolyPhen-2 0.88
- SIFT 0.08
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available