I100N (p.Ile100Asn) variant of TNNT2 (Troponin T, cardiac muscle)
I100N (p.Ile100Asn) 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 Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature.
I100N (p.Ile100Asn) variant details
- p.Ile100Asn
- rs2102262330
- ClinGen CA344206599
- ClinVar RCV002273196
- ClinVar RCV005227563
- Likely pathogenic
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)