P12L (p.Pro12Leu) variant of TNNI3 (Troponin I, cardiac muscle)
P12L (p.Pro12Leu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hypertrophic cardiomyopathy; Cardiovascular phenotype; Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- rs768052584
- ClinGen CA051333
- ClinVar RCV001185813
- ClinVar RCV001876174
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype; Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.59
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype; Cardiomyo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)