K6del (p.Lys6del) variant of TRPM4 (Q8TD43)
K6del (p.Lys6del) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
K6del (p.Lys6del) variant details
- gnomAD 19-49157879-GAGA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 22.30
- Most common in the REMAINING population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available