Q8K (p.Gln8Lys) variant of TRPM4 (Q8TD43)
Q8K (p.Gln8Lys) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD 19-49157888-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.00
- PolyPhen-2 0.11
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available