I19M (p.Ile19Met) variant of TNNI3 (Troponin I, cardiac muscle)
I19M (p.Ile19Met) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
I19M (p.Ile19Met) variant details
- p.Ile19Met
- ExAC rs778133452
- TOPMed rs778133452
- gnomAD rs778133452
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.76
- CADD 0.25
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available