D7N (p.Asp7Asn) variant of TNNI3 (Troponin I, cardiac muscle)
D7N (p.Asp7Asn) 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 Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- rs1201960520
- TOPMed rs1201960520
- gnomAD rs1201960520
- Uncertain significance
- Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.19
- MetaLR 0.38
- MetaSVM -0.79
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiomyopathy; Cardiovascular phenotype; Hypertrophic cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available