Q36K (p.Gln36Lys) variant of TRPM4 (Q8TD43)
Q36K (p.Gln36Lys) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q36K (p.Gln36Lys) variant details
- p.Gln36Lys
- gnomAD 19-49166054-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.23
- ESM-1b 0.83
- AlphaMissense 0.16
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available