M49P (p.Met49Pro) variant of TRPM4 (Q8TD43)
M49P (p.Met49Pro) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
M49P (p.Met49Pro) variant details
- p.Met49Pro
- gnomAD 19-49166089-G-GGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 25.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available