E13E (p.Glu13Glu) variant of TMEM43 (Transmembrane protein 43)
E13E (p.Glu13Glu) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
E13E (p.Glu13Glu) variant details
- p.Glu13Glu
- rs1444701312
- gnomAD 3-14129438-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.67
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available