I89F (p.Ile89Phe) variant of TNNT2 (Troponin T, cardiac muscle)
I89F (p.Ile89Phe) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
I89F (p.Ile89Phe) variant details
- p.Ile89Phe
- rs746297911
- ClinGen CA088960
- ClinVar RCV000807862
- ExAC rs746297911
- Likely pathogenic
- Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- CADD 28.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Likely pathogenic (Hypertrophic cardiomyopathy 2; Dilated cardiomyopathy 1D; Cardio)
- EBI: Likely pathogenic (in CMH2)
- UniProt: Likely pathogenic (in CMH2)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)