S20S (p.Ser20Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
S20S (p.Ser20Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs201837726
- gnomAD 1-201414647-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.459
- CADD 16.70
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available
- Literature evidence available