T8N (p.Thr8Asn) variant of ABCG5 (Q9H222)
T8N (p.Thr8Asn) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T8N (p.Thr8Asn) variant details
- p.Thr8Asn
- rs757846931
- ClinGen CA346662163
- ClinVar RCV001136900
- ExAC rs757846931
- Uncertain significance
- Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 6.80
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)