K58R (p.Lys58Arg) variant of ANGPTL3 (Angiopoietin-related protein 3)
K58R (p.Lys58Arg) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K58R (p.Lys58Arg) variant details
- p.Lys58Arg
- gnomAD 1-62597739-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.08
- CADD 17.70
- PolyPhen-2 0.08
- SIFT 0.59
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available