A46V (p.Ala46Val) variant of TNNI1 (Troponin I, slow skeletal muscle)
A46V (p.Ala46Val) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- gnomAD 1-201414570-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available