P30P (p.Pro30Pro) variant of TRPM4 (Q8TD43)
P30P (p.Pro30Pro) in TRPM4 (Q8TD43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P30P (p.Pro30Pro) variant details
- p.Pro30Pro
- gnomAD 19-49158257-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available