R41W (p.Arg41Trp) variant of TRPM4 (Q8TD43)
R41W (p.Arg41Trp) 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; Progressive familial heart block type IB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R41W (p.Arg41Trp) variant details
- p.Arg41Trp
- rs1028746202
- ClinGen CA309429461
- ClinVar RCV002026710
- ClinVar RCV002361404
- Uncertain significance
- Cardiovascular phenotype; Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- ESM-1b 0.48
- AlphaMissense 0.12
- CADD 20.90
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype; Progressive familial heart block type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available