D91N (p.Asp91Asn) variant of TNNT2 (Troponin T, cardiac muscle)
D91N (p.Asp91Asn) in TNNT2 (Troponin T, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and published literature.
D91N (p.Asp91Asn) variant details
- p.Asp91Asn
- rs1571630555
- ClinGen CA344206679
- cosmic curated COSV52661
- ClinVar RCV001360760
- Uncertain significance
- Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardiomyopathy, famili
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Hypertrophic cardiomyopathy 2; Cardio)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- 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)