K16N (p.Lys16Asn) variant of TMEM43 (Transmembrane protein 43)
K16N (p.Lys16Asn) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
K16N (p.Lys16Asn) variant details
- p.Lys16Asn
- rs1695063356
- ClinGen CA351534228
- ClinVar RCV001185873
- Ensembl rs1695063356
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.02
- CADD 18.40
- PolyPhen-2 0.03
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)