T51M (p.Thr51Met) variant of TNNI1 (Troponin I, slow skeletal muscle)
T51M (p.Thr51Met) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. Clinical records from ClinVar 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 0.37 / 1. The record also includes population frequency data and structural context.
T51M (p.Thr51Met) variant details
- p.Thr51Met
- rs372956100
- ESP rs372956100
- ExAC rs372956100
- TOPMed rs372956100
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.35
- CADD 23.00
- PolyPhen-2 0.21
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available