P18S (p.Pro18Ser) variant of TNNI3 (Troponin I, cardiac muscle)
P18S (p.Pro18Ser) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- ExAC rs779416591
- TOPMed rs779416591
- gnomAD rs779416591
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.35
- MetaLR 0.87
- MetaSVM 0.81
- CADD 22.90
- PolyPhen-2 0.80
- SIFT 0.14
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available