N76K (p.Asn76Lys) variant of ANGPTL3 (Angiopoietin-related protein 3)
N76K (p.Asn76Lys) in ANGPTL3 (Angiopoietin-related protein 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Developmental and epileptic encephalopathy, 23; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N76K (p.Asn76Lys) variant details
- p.Asn76Lys
- rs149086653
- ClinGen CA886539
- ClinVar RCV001516306
- ClinVar RCV001516307
- Benign/Likely benign
- Developmental and epileptic encephalopathy, 23; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.12
- CADD 21.90
- PolyPhen-2 0.53
- SIFT 0.06
- ClinVar: Benign/Likely benign (Developmental and epileptic encephalopathy, 23; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.018)
- Structural context available