L90S (p.Leu90Ser) variant of APOH (Beta-2-glycoprotein 1)
L90S (p.Leu90Ser) in APOH (Beta-2-glycoprotein 1) 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 0.62 / 1. The record also includes population frequency data and structural context.
L90S (p.Leu90Ser) variant details
- p.Leu90Ser
- rs1189396256
- NCI-TCGA Cosmic COSV9923
- gnomAD rs1189396256
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.59
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available