T21R (p.Thr21Arg) variant of TRPM4 (Q8TD43)
T21R (p.Thr21Arg) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
T21R (p.Thr21Arg) variant details
- p.Thr21Arg
- gnomAD 19-49158227-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.465
- CADD 27.30
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available