D7H (p.Asp7His) variant of TNNI3 (Troponin I, cardiac muscle)
D7H (p.Asp7His) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D7H (p.Asp7His) variant details
- p.Asp7His
- rs1201960520
- ClinGen CA407443378
- ClinVar RCV000521742
- TOPMed rs1201960520
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.24
- MetaLR 0.48
- MetaSVM -0.51
- CADD 22.50
- PolyPhen-2 0.33
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available