G32R (p.Gly32Arg) variant of TRPM4 (Q8TD43)
G32R (p.Gly32Arg) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G32R (p.Gly32Arg) variant details
- p.Gly32Arg
- rs1216651490
- ClinGen CA406789292
- ClinVar RCV002374134
- TOPMed rs1216651490
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available