P12S (p.Pro12Ser) variant of TNNI3 (Troponin I, cardiac muscle)
P12S (p.Pro12Ser) 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 not specified; Cardiomyopathy; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P12S (p.Pro12Ser) variant details
- p.Pro12Ser
- rs553214254
- ClinGen CA051305
- ClinVar RCV001175475
- ClinVar RCV001182994
- Uncertain significance
- not specified; Cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.09
- MetaLR 0.23
- MetaSVM -0.91
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 0.19
- ClinVar: Uncertain significance (not specified; Cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)