P77L (p.Pro77Leu) variant of TNNT2 (Troponin T, cardiac muscle)
P77L (p.Pro77Leu) 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; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
P77L (p.Pro77Leu) variant details
- p.Pro77Leu
- rs769040140
- ClinGen CA088085
- ClinVar RCV001928654
- ClinVar RCV004804303
- Uncertain significance
- Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, familial restrictive
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 27.30
- PolyPhen-2 0.71
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiomyopathy; Dilated cardiomyopathy 1D; Cardiomyopathy, famil)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)