N34S (p.Asn34Ser) variant of ABCG8 (Q9H221)
N34S (p.Asn34Ser) in ABCG8 (Q9H221) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N34S (p.Asn34Ser) variant details
- p.Asn34Ser
- ExAC rs76972450
- gnomAD rs76972450
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.24
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available