D190G (p.Asp190Gly) variant of TNNI3 (Troponin I, cardiac muscle)
D190G (p.Asp190Gly) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
D190G (p.Asp190Gly) variant details
- p.Asp190Gly
- rs104894728
- ClinGen CA021945
- ClinVar RCV000013235
- ClinVar RCV000013236
- Pathogenic
- Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyopathy 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.65
- ClinVar: Pathogenic (Cardiomyopathy, familial restrictive, 1; Hypertrophic cardiomyop)
- EBI: Pathogenic (in CMH7 and RCM1)
- UniProt: Pathogenic (in CMH7 and RCM1)
- Structural context available
- Cited in: Troponin I: inhibitor or facilitator. (PMID 10098965)
- Cited in: Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations. (PMID 12531876)