V3M (p.Val3Met) variant of TRPM4 (Q8TD43)
V3M (p.Val3Met) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V3M (p.Val3Met) variant details
- p.Val3Met
- gnomAD 19-49157873-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.10
- PolyPhen-2 0.20
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available