K18del (p.Lys18del) variant of TRPM4 (Q8TD43)
K18del (p.Lys18del) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
K18del (p.Lys18del) variant details
- rs1361734644
- gnomAD 19-49158212-CAAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.563
- CADD 22.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available