M81I (p.Met81Ile) variant of TNNT2 (Troponin T, cardiac muscle)
M81I (p.Met81Ile) 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; Cardiomyopathy, familial restrictive, 3; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature.
M81I (p.Met81Ile) variant details
- p.Met81Ile
- rs2102265521
- ClinGen CA088533
- ClinVar RCV002051334
- Ensembl rs2102265521
- Uncertain significance
- Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive, 3; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- AlphaMissense 0.44
- MetaLR 0.95
- MetaSVM 1.12
- PolyPhen-2 0.61
- SIFT 0.17
- EVE 0.16
- ClinVar: Uncertain significance (Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)