C37F (p.Cys37Phe) variant of TRPM4 (Q8TD43)
C37F (p.Cys37Phe) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C37F (p.Cys37Phe) variant details
- p.Cys37Phe
- Ensembl rs1967161146
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 7.7e-05)
- Structural context available