E74D (p.Glu74Asp) variant of TNNI1 (Troponin I, slow skeletal muscle)
E74D (p.Glu74Asp) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E74D (p.Glu74Asp) variant details
- p.Glu74Asp
- rs956135288
- NCI-TCGA Cosmic COSV6018
- cosmic curated COSV60189
- TOPMed rs956135288
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.25
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available