N30K (p.Asn30Lys) variant of LDLR (Low-density lipoprotein receptor)
N30K (p.Asn30Lys) 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 not specified; Familial hypercholesterolemia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- rs72658855
- ClinGen CA404074652
- ClinVar RCV000521404
- ClinVar RCV001273280
- Uncertain significance
- not specified; Familial hypercholesterolemia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0546
- CADD 0.06
- PolyPhen-2 0.17
- SIFT 0.16
- ClinVar: Uncertain significance (not specified; Familial hypercholesterolemia; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)