A71T (p.Ala71Thr) variant of TNNI1 (Troponin I, slow skeletal muscle)
A71T (p.Ala71Thr) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- 1000Genomes rs12354200
- ESP rs12354200
- ExAC rs12354200
- TOPMed rs12354200
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.41
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.25
- Most common in the 1KG:LWK population (allele frequency 0.023)
- Structural context available