R41Q (p.Arg41Gln) variant of TRPM4 (Q8TD43)
R41Q (p.Arg41Gln) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- cosmic curated COSV53263
- gnomAD rs1255971986
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 23.40
- PolyPhen-2 0.78
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available