E78A (p.Glu78Ala) variant of TNNI1 (Troponin I, slow skeletal muscle)
E78A (p.Glu78Ala) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E78A (p.Glu78Ala) variant details
- p.Glu78Ala
- gnomAD rs1463076821
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available