L57M (p.Leu57Met) variant of TNNI1 (Troponin I, slow skeletal muscle)
L57M (p.Leu57Met) 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 0.27 / 1. The record also includes population frequency data and structural context.
L57M (p.Leu57Met) variant details
- p.Leu57Met
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10027
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available