E100D (p.Glu100Asp) variant of ABCC8 (Q09428)
E100D (p.Glu100Asp) in ABCC8 (Q09428) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E100D (p.Glu100Asp) variant details
- p.Glu100Asp
- ExAC rs753151571
- gnomAD rs753151571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.28
- CADD 2.56
- PolyPhen-2 0.00
- SIFT 0.49
- EBI: uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available