A35V (p.Ala35Val) variant of TNNI3 (Troponin I, cardiac muscle)
A35V (p.Ala35Val) 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 Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A35V (p.Ala35Val) variant details
- p.Ala35Val
- rs1190447904
- ClinGen CA407442832
- ClinVar RCV000556107
- ClinVar RCV001191186
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.37
- MetaLR 0.66
- MetaSVM -0.12
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 7; Dilated)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- 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: Dilated Cardiomyopathy Overview. (PMID 20301486)