A28V (p.Ala28Val) variant of TNNI3 (Troponin I, cardiac muscle)
A28V (p.Ala28Val) 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. 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.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs1194177269
- ClinGen CA407442955
- ClinVar RCV003749975
- TOPMed rs1194177269
- Uncertain significance
- Hypertrophic cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.29
- MetaLR 0.53
- MetaSVM 0.11
- CADD 27.60
- PolyPhen-2 0.74
- SIFT 0.04
- ClinVar: Uncertain significance (Hypertrophic cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available