D33N (p.Asp33Asn) variant of ABCG8 (Q9H221)
D33N (p.Asp33Asn) in ABCG8 (Q9H221) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Gallbladder disease 4; Sitosterolemia 1; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D33N (p.Asp33Asn) variant details
- p.Asp33Asn
- rs148456883
- ClinGen CA1636887
- ClinVar RCV000591513
- ClinVar RCV001336053
- Uncertain significance
- Gallbladder disease 4; Sitosterolemia 1; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.41
- CADD 29.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Gallbladder disease 4; Sitosterolemia 1; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)