C20C (p.Cys20Cys) variant of TRPM4 (Q8TD43)
C20C (p.Cys20Cys) in TRPM4 (Q8TD43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
C20C (p.Cys20Cys) variant details
- p.Cys20Cys
- rs1306247621
- gnomAD 19-49158227-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available