G38R (p.Gly38Arg) variant of TRPM4 (Q8TD43)
G38R (p.Gly38Arg) in TRPM4 (Q8TD43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- TOPMed rs1283660220
- gnomAD rs1283660220
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available