R19G (p.Arg19Gly) variant of APOA1 (Apolipoprotein A-I)
R19G (p.Arg19Gly) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- gnomAD 11-116837146-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.43
- CADD 26.60
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available
- Literature evidence available