R48H (p.Arg48His) variant of TNNI1 (Troponin I, slow skeletal muscle)
R48H (p.Arg48His) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R48H (p.Arg48His) variant details
- p.Arg48His
- rs200415229
- ClinGen CA1325493
- ClinVar RCV004230580
- 1000Genomes rs200415229
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- REVEL 0.53
- CADD 23.70
- PolyPhen-2 0.59
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available