T54A (p.Thr54Ala) variant of TNNI1 (Troponin I, slow skeletal muscle)
T54A (p.Thr54Ala) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T54A (p.Thr54Ala) variant details
- p.Thr54Ala
- gnomAD 1-201414547-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.35
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available