S9G (p.Ser9Gly) variant of TRPM4 (Q8TD43)
S9G (p.Ser9Gly) 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 0.43 / 1. The record also includes population frequency data and structural context.
S9G (p.Ser9Gly) variant details
- p.Ser9Gly
- rs774622226
- ClinGen CA9568651
- ClinVar RCV004522183
- ExAC rs774622226
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.49
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 27.80
- PolyPhen-2 0.72
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available