I24S (p.Ile24Ser) variant of TRPM4 (Q8TD43)
I24S (p.Ile24Ser) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
I24S (p.Ile24Ser) variant details
- p.Ile24Ser
- gnomAD 19-49158236-CAT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.547
- CADD 26.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available