A46T (p.Ala46Thr) variant of TNNI1 (Troponin I, slow skeletal muscle)
A46T (p.Ala46Thr) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- cosmic curated COSV60190
- gnomAD rs1043296628
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.30
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available