Q53K (p.Gln53Lys) variant of TNNI1 (Troponin I, slow skeletal muscle)
Q53K (p.Gln53Lys) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q53K (p.Gln53Lys) variant details
- p.Gln53Lys
- gnomAD 1-201414550-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.21
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available