A2V (p.Ala2Val) variant of TNNI3 (Troponin I, cardiac muscle)
A2V (p.Ala2Val) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs397516359
- ClinGen CA022031
- NCI-TCGA Cosmic COSV1007
- Conflicting interpretations
- not specified; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.61
- MetaLR 0.89
- MetaSVM 0.41
- CADD 24.30
- PolyPhen-2 0.86
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in CMD2A)
- UniProt: Pathogenic (in CMD2A)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. (PMID 15070570)
- Cited in: Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant… (PMID 19590045)