E38K (p.Glu38Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E38K (p.Glu38Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E38K (p.Glu38Lys) variant details
- p.Glu38Lys
- cosmic curated COSV10465
- ExAC rs765186576
- gnomAD rs765186576
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.06
- SIFT 0.49
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available