K38N (p.Lys38Asn) variant of LDLR (Low-density lipoprotein receptor)
K38N (p.Lys38Asn) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
K38N (p.Lys38Asn) variant details
- p.Lys38Asn
- rs2147210320
- ClinGen CA404074732
- ClinVar RCV001923846
- Ensembl rs2147210320
- Uncertain significance
- Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.39
- MetaLR 0.81
- MetaSVM 0.51
- PolyPhen-2 0.98
- SIFT 0.01
- EVE 0.25
- ClinVar: Uncertain significance (Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)