R39H (p.Arg39His) variant of TRPM4 (Q8TD43)
R39H (p.Arg39His) 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 0.28 / 1. The record also includes population frequency data and structural context.
R39H (p.Arg39His) variant details
- p.Arg39His
- rs1202949892
- ClinGen CA406789385
- cosmic curated COSV53261
- ClinVar RCV003380386
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.06
- ESM-1b 0.93
- AlphaMissense 0.06
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available