E71A (p.Glu71Ala) variant of TNNT2 (Troponin T, cardiac muscle)
E71A (p.Glu71Ala) 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 Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature and structural context.
E71A (p.Glu71Ala) variant details
- p.Glu71Ala
- rs2102274024
- ClinGen CA344206798
- ClinVar RCV001998264
- Ensembl rs2102274024
- Uncertain significance
- Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy 1D; Hypertrophic
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- AlphaMissense 0.11
- MetaLR 0.95
- MetaSVM 1.06
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.23
- ClinVar: Uncertain significance (Cardiomyopathy, familial restrictive, 3; Dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)