R48S (p.Arg48Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
R48S (p.Arg48Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
R48S (p.Arg48Ser) variant details
- p.Arg48Ser
- gnomAD 1-201414565-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.74
- CADD 23.00
- PolyPhen-2 0.29
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available