V17A (p.Val17Ala) variant of TMEM43 (Transmembrane protein 43)
V17A (p.Val17Ala) 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 0.31 / 1. The record also includes published literature and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs1695063437
- ClinGen CA351534232
- ClinVar RCV001176422
- Ensembl rs1695063437
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- AlphaMissense 0.20
- MetaLR 0.07
- MetaSVM -1.06
- PolyPhen-2 0.06
- SIFT 0.02
- MutPred 0.28
- 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)