E5K (p.Glu5Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
E5K (p.Glu5Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- rs201326771
- ClinGen CA1325558
- cosmic curated COSV60190
- ClinVar RCV004082974
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.50
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available