K18T (p.Lys18Thr) variant of TRPM4 (Q8TD43)
K18T (p.Lys18Thr) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K18T (p.Lys18Thr) variant details
- p.Lys18Thr
- TOPMed rs2041554311
- gnomAD rs2041554311
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.39
- ESM-1b 0.54
- AlphaMissense 0.83
- CADD 28.50
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available