R39C (p.Arg39Cys) variant of TRPM4 (Q8TD43)
R39C (p.Arg39Cys) in TRPM4 (Q8TD43) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
R39C (p.Arg39Cys) variant details
- p.Arg39Cys
- rs865920466
- ClinGen CA309429451
- ClinVar RCV003854091
- Ensembl rs865920466
- Uncertain significance
- Progressive familial heart block type IB
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.08
- CADD 17.60
- PolyPhen-2 0.33
- SIFT 0.07
- ClinVar: Uncertain significance (Progressive familial heart block type IB)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available