K44Q (p.Lys44Gln) variant of ANGPTL3 (Angiopoietin-related protein 3)
K44Q (p.Lys44Gln) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K44Q (p.Lys44Gln) variant details
- p.Lys44Gln
- gnomAD 1-62597696-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available