D43E (p.Asp43Glu) variant of SCN9A (Q15858)
D43E (p.Asp43Glu) in SCN9A (Q15858) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- ESP rs200826539
- ExAC rs200826539
- gnomAD rs200826539
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- MetaLR 0.40
- MetaSVM -0.34
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available