R39A (p.Arg39Ala) variant of TRPM4 (Q8TD43)
R39A (p.Arg39Ala) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R39A (p.Arg39Ala) variant details
- p.Arg39Ala
- gnomAD 19-49166059-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available