A22S (p.Ala22Ser) variant of LDLR (Low-density lipoprotein receptor)
A22S (p.Ala22Ser) 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 Hypercholesterolemia, familial, 1; Familial hypercholesterolemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A22S (p.Ala22Ser) variant details
- p.Ala22Ser
- rs942568624
- ClinGen CA305287461
- ClinVar RCV000775622
- ClinVar RCV004001460
- Uncertain significance
- Hypercholesterolemia, familial, 1; Familial hypercholesterolemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (Hypercholesterolemia, familial, 1; Familial hypercholesterolemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Familial Hypercholesterolemia. (PMID 24404629)
- Cited in: Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. (PMID 15177124)