D42Y (p.Asp42Tyr) variant of APOB (Apolipoprotein B-100)
D42Y (p.Asp42Tyr) in APOB (Apolipoprotein B-100) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- ExAC rs748171850
- gnomAD rs748171850
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.22
- MetaLR 0.04
- MetaSVM -1.18
- CADD 25.30
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available