S39P (p.Ser39Pro) variant of TNNI3 (Troponin I, cardiac muscle)
S39P (p.Ser39Pro) 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 0.55 / 1. The record also includes population frequency data and structural context.
S39P (p.Ser39Pro) variant details
- p.Ser39Pro
- rs1568859416
- ClinGen CA407442488
- ClinVar RCV002375438
- ClinVar RCV003094454
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.48
- MetaLR 0.73
- MetaSVM 0.35
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available