R39S (p.Arg39Ser) variant of TRPM4 (Q8TD43)
R39S (p.Arg39Ser) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R39S (p.Arg39Ser) variant details
- p.Arg39Ser
- gnomAD 19-49166063-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available