N34T (p.Asn34Thr) variant of ABCG8 (Q9H221)
N34T (p.Asn34Thr) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
N34T (p.Asn34Thr) variant details
- p.Asn34Thr
- ExAC rs76972450
- gnomAD rs76972450
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.42
- CADD 23.00
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available