K40M (p.Lys40Met) variant of TNNI3 (Troponin I, cardiac muscle)
K40M (p.Lys40Met) 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; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
K40M (p.Lys40Met) variant details
- p.Lys40Met
- rs2515502447
- ClinGen CA407442468
- ClinVar RCV002344683
- ClinVar RCV005096766
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.79
- MetaLR 0.89
- MetaSVM 0.98
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available