A65S (p.Ala65Ser) variant of TMEM43 (Transmembrane protein 43)
A65S (p.Ala65Ser) 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 0.30 / 1. The record also includes published literature and structural context.
A65S (p.Ala65Ser) variant details
- p.Ala65Ser
- rs1695084511
- ClinGen CA351534542
- ClinVar RCV001182436
- Ensembl rs1695084511
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -0.99
- PolyPhen-2 0.19
- SIFT 0.07
- EVE 0.14
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)