N83H (p.Asn83His) variant of TNNT2 (Troponin T, cardiac muscle)
N83H (p.Asn83His) 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 Hypokinetic non-dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
N83H (p.Asn83His) variant details
- p.Asn83His
- rs1060500235
- ClinGen CA344206721
- ClinVar RCV000491780
- Ensembl rs1060500235
- Uncertain significance
- Hypokinetic non-dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- AlphaMissense 0.38
- MetaLR 0.96
- MetaSVM 1.11
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.03
- ClinVar: Uncertain significance (Hypokinetic non-dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)