V47M (p.Val47Met) variant of TRPM4 (Q8TD43)
V47M (p.Val47Met) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V47M (p.Val47Met) variant details
- p.Val47Met
- gnomAD 19-49166087-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.31
- ESM-1b 0.81
- AlphaMissense 0.19
- CADD 23.70
- PolyPhen-2 0.56
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available