N34D (p.Asn34Asp) variant of ABCG8 (Q9H221)
N34D (p.Asn34Asp) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Sitosterolemia 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
N34D (p.Asn34Asp) variant details
- p.Asn34Asp
- rs897087769
- ClinGen CA346663141
- ClinVar RCV003079334
- ClinVar RCV004661556
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.33
- CADD 22.40
- PolyPhen-2 0.34
- SIFT 0.06
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia 1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)