E8del (p.Glu8del) variant of SLC12A3 (P55017)
E8del (p.Glu8del) in SLC12A3 (P55017) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
E8del (p.Glu8del) variant details
- gnomAD 16-56865256-AGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.197
- CADD 16.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available