S27P (p.Ser27Pro) variant of TRPM4 (Q8TD43)
S27P (p.Ser27Pro) 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.
S27P (p.Ser27Pro) variant details
- p.Ser27Pro
- gnomAD 19-49158246-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.05
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available