P12T (p.Pro12Thr) variant of TNNI3 (Troponin I, cardiac muscle)
P12T (p.Pro12Thr) 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 0.16 / 1. The record also includes population frequency data and structural context.
P12T (p.Pro12Thr) variant details
- p.Pro12Thr
- 1000Genomes rs553214254
- ExAC rs553214254
- gnomAD rs553214254
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.13
- MetaLR 0.29
- MetaSVM -0.83
- CADD 6.34
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available