R27G (p.Arg27Gly) variant of TNNI3 (Troponin I, cardiac muscle)
R27G (p.Arg27Gly) 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 Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs1555864366
- ClinGen CA407442984
- ClinVar RCV000606248
- ClinVar RCV000800634
- Uncertain significance
- Cardiovascular phenotype; not specified; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.0847
- CADD 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Hypertrophic cardiomyop)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available