D19N (p.Asp19Asn) variant of ABCG8 (Q9H221)
D19N (p.Asp19Asn) in ABCG8 (Q9H221) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- 1000Genomes rs11887534
- ESP rs11887534
- ExAC rs11887534
- TOPMed rs11887534
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.08
- SIFT 0.09
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available