R22L (p.Arg22Leu) variant of TNNI3 (Troponin I, cardiac muscle)
R22L (p.Arg22Leu) 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; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- rs397516360
- ClinGen CA407443073
- ClinVar RCV000628892
- ClinVar RCV006367163
- Uncertain significance
- Hypertrophic cardiomyopathy; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.38
- MetaLR 0.52
- MetaSVM -0.06
- CADD 23.20
- PolyPhen-2 0.80
- SIFT 0.17
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available