Y30H (p.Tyr30His) variant of APOA5 (Apolipoprotein A-V)
Y30H (p.Tyr30His) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y30H (p.Tyr30His) variant details
- p.Tyr30His
- Ensembl rs935117831
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.64
- CADD 24.00
- PolyPhen-2 0.77
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available