N110S (p.Asn110Ser) variant of TNNT2 (Troponin T, cardiac muscle)
N110S (p.Asn110Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
N110S (p.Asn110Ser) variant details
- p.Asn110Ser
- rs727505027
- ClinGen CA004329
- ClinVar RCV000156453
- ClinVar RCV003531988
- Uncertain significance
- Cardiomyopathy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 22.30
- PolyPhen-2 0.24
- SIFT 0.79
- ClinVar: Uncertain significance (Cardiomyopathy; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)