Q8Q (p.Gln8Gln) variant of TRPM4 (Q8TD43)
Q8Q (p.Gln8Gln) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
Q8Q (p.Gln8Gln) variant details
- p.Gln8Gln
- rs2041543043
- gnomAD 19-49157890-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available