T31R (p.Thr31Arg) variant of TNNI3 (Troponin I, cardiac muscle)
T31R (p.Thr31Arg) 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 Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T31R (p.Thr31Arg) variant details
- p.Thr31Arg
- rs201928445
- ClinGen CA407442911
- ClinVar RCV003029658
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.49
- MetaLR 0.59
- MetaSVM 0.09
- CADD 22.80
- PolyPhen-2 0.73
- SIFT 0.37
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available