A61S (p.Ala61Ser) variant of TNNI1 (Troponin I, slow skeletal muscle)
A61S (p.Ala61Ser) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
A61S (p.Ala61Ser) variant details
- p.Ala61Ser
- gnomAD 1-201414526-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available