A65V (p.Ala65Val) variant of TNNI3 (Troponin I, cardiac muscle)
A65V (p.Ala65Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phen. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs1057518784
- ClinGen CA16043560
- ClinVar RCV000415365
- ClinVar RCV001183815
- Uncertain significance
- Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Cardiovascular phen
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.47
- MetaLR 0.59
- MetaSVM -0.38
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy; Car)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Cardiomyopathy, familial dilated. (PMID 16839424)