K34N (p.Lys34Asn) variant of ANGPTL3 (Angiopoietin-related protein 3)
K34N (p.Lys34Asn) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K34N (p.Lys34Asn) variant details
- p.Lys34Asn
- gnomAD 1-62597668-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.20
- CADD 23.00
- PolyPhen-2 0.96
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available