C37V (p.Cys37Val) variant of TRPM4 (Q8TD43)
C37V (p.Cys37Val) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C37V (p.Cys37Val) variant details
- p.Cys37Val
- gnomAD 19-49166054-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.806
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available