T31P (p.Thr31Pro) variant of TNNI3 (Troponin I, cardiac muscle)
T31P (p.Thr31Pro) 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 0.46 / 1. The record also includes population frequency data and structural context.
T31P (p.Thr31Pro) variant details
- p.Thr31Pro
- gnomAD rs1298916040
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.44
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.34
- CADD 22.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available