A46Q (p.Ala46Gln) variant of TRPM4 (Q8TD43)
A46Q (p.Ala46Gln) 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.
A46Q (p.Ala46Gln) variant details
- p.Ala46Gln
- gnomAD 19-49166079-AC-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 23.00
- Population evidence available
- Structural context available
- Literature evidence available