R45Q (p.Arg45Gln) variant of TNNI3 (Troponin I, cardiac muscle)
R45Q (p.Arg45Gln) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs2147284967
- gnomAD 19-55156288-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.76
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available