E5E (p.Glu5Glu) variant of TRPM4 (Q8TD43)
E5E (p.Glu5Glu) in TRPM4 (Q8TD43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E5E (p.Glu5Glu) variant details
- p.Glu5Glu
- gnomAD 19-49157881-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.401
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available