S44W (p.Ser44Trp) variant of TNNI3 (Troponin I, cardiac muscle)
S44W (p.Ser44Trp) in TNNI3 (Troponin I, cardiac muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
S44W (p.Ser44Trp) variant details
- p.Ser44Trp
- rs730881085
- ClinGen CA021278
- ClinVar RCV000159256
- ClinVar RCV001058132
- Conflicting interpretations
- Cardiovascular phenotype; not provided; Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 0.89
- MetaLR 0.90
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.58
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; not provided; Hypertrophic cardiomyopa)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available