P18A (p.Pro18Ala) variant of TNNI3 (Troponin I, cardiac muscle)
P18A (p.Pro18Ala) 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 Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
P18A (p.Pro18Ala) variant details
- p.Pro18Ala
- rs779416591
- ClinGen CA407443129
- ClinVar RCV001180213
- ExAC rs779416591
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.34
- MetaLR 0.81
- MetaSVM 0.60
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)