D18N (p.Asp18Asn) variant of ABCC8 (Q09428)
D18N (p.Asp18Asn) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D18N (p.Asp18Asn) variant details
- p.Asp18Asn
- ExAC rs761650987
- gnomAD rs761650987
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.23
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available