H101L (p.His101Leu) variant of TNNT2 (Troponin T, cardiac muscle)
H101L (p.His101Leu) 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 Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature.
H101L (p.His101Leu) variant details
- p.His101Leu
- rs1553282617
- ClinGen CA344206589
- ClinVar RCV000646070
- Ensembl rs1553282617
- Uncertain significance
- Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrictive, 3; Dilated
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.62
- MetaLR 0.96
- MetaSVM 1.12
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy 2; Cardiomyopathy, familial restrict)
- 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)