Y54H (p.Tyr54His) variant of APOB (Apolipoprotein B-100)
Y54H (p.Tyr54His) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y54H (p.Tyr54His) variant details
- p.Tyr54His
- gnomAD rs1444080943
- Missense
- Variant Prioritization Score for Impact Estimate 0.741
- REVEL 0.83
- MetaLR 0.68
- MetaSVM 0.49
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available