L60H (p.Leu60His) variant of APOA5 (Apolipoprotein A-V)
L60H (p.Leu60His) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L60H (p.Leu60His) variant details
- p.Leu60His
- ExAC rs773988647
- gnomAD rs773988647
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.47
- CADD 24.90
- PolyPhen-2 0.81
- SIFT 0.00
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.026)
- Structural context available