P33S (p.Pro33Ser) variant of TNNI3 (Troponin I, cardiac muscle)
P33S (p.Pro33Ser) 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 0.59 / 1. The record also includes population frequency data and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- gnomAD rs1379608043
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.45
- MetaLR 0.76
- MetaSVM 0.54
- CADD 20.80
- PolyPhen-2 0.22
- SIFT 0.17
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available