Q48R (p.Gln48Arg) variant of TNNI3 (Troponin I, cardiac muscle)
Q48R (p.Gln48Arg) 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.
Q48R (p.Gln48Arg) variant details
- p.Gln48Arg
- 1000Genomes rs200720341
- ExAC rs200720341
- gnomAD rs200720341
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.61
- MetaLR 0.73
- MetaSVM 0.41
- CADD 23.80
- PolyPhen-2 0.57
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available