R51K (p.Arg51Lys) variant of APOA1 (Apolipoprotein A-I)
R51K (p.Arg51Lys) in APOA1 (Apolipoprotein A-I) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R51K (p.Arg51Lys) variant details
- p.Arg51Lys
- gnomAD 11-116837049-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0947
- REVEL 0.07
- CADD 7.56
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available