H30Y (p.His30Tyr) variant of LPA (Apolipoprotein(a))
H30Y (p.His30Tyr) in LPA (Apolipoprotein(a)) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
H30Y (p.His30Tyr) variant details
- p.His30Tyr
- ExAC rs751745914
- gnomAD rs751745914
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.00
- CADD 10.30
- PolyPhen-2 0.97
- SIFT 0.70
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available