R48R (p.Arg48Arg) variant of TNNI1 (Troponin I, slow skeletal muscle)
R48R (p.Arg48Arg) in TNNI1 (Troponin I, slow skeletal muscle) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R48R (p.Arg48Arg) variant details
- p.Arg48Arg
- gnomAD 1-201414563-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 14.20
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Literature evidence available