H14R (p.His14Arg) variant of TMEM43 (Transmembrane protein 43)
H14R (p.His14Arg) in TMEM43 (Transmembrane protein 43) 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 0.32 / 1. The record also includes population frequency data and structural context.
H14R (p.His14Arg) variant details
- p.His14Arg
- rs1695063152
- ClinGen CA351534212
- ClinVar RCV002327846
- TOPMed rs1695063152
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.17
- CADD 24.50
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available