S27F (p.Ser27Phe) variant of TRPM4 (Q8TD43)
S27F (p.Ser27Phe) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S27F (p.Ser27Phe) variant details
- p.Ser27Phe
- gnomAD 19-49158247-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- ESM-1b 0.27
- AlphaMissense 0.12
- CADD 17.60
- PolyPhen-2 0.18
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available