H70D (p.His70Asp) variant of TNNI1 (Troponin I, slow skeletal muscle)
H70D (p.His70Asp) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
H70D (p.His70Asp) variant details
- p.His70Asp
- gnomAD rs1662666446
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- REVEL 0.95
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available