Y5H (p.Tyr5His) variant of TMEM43 (Transmembrane protein 43)
Y5H (p.Tyr5His) 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; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y5H (p.Tyr5His) variant details
- p.Tyr5His
- rs727505249
- ClinGen CA024602
- ClinVar RCV000156770
- ClinVar RCV001177858
- Uncertain significance
- Cardiovascular phenotype; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.05
- CADD 23.20
- PolyPhen-2 0.46
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)