C35F (p.Cys35Phe) variant of TRPM4 (Q8TD43)
C35F (p.Cys35Phe) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
C35F (p.Cys35Phe) variant details
- p.Cys35Phe
- gnomAD 19-49166052-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.79
- ESM-1b 1.00
- AlphaMissense 0.94
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available