V3G (p.Val3Gly) variant of TRPM4 (Q8TD43)
V3G (p.Val3Gly) in TRPM4 (Q8TD43) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V3G (p.Val3Gly) variant details
- p.Val3Gly
- TOPMed rs1600378229
- gnomAD rs1600378229
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.04
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.57
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available