C20F (p.Cys20Phe) variant of TRPM4 (Q8TD43)
C20F (p.Cys20Phe) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C20F (p.Cys20Phe) variant details
- p.Cys20Phe
- gnomAD 19-49158226-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.89
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available