I49N (p.Ile49Asn) variant of TNNI1 (Troponin I, slow skeletal muscle)
I49N (p.Ile49Asn) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
I49N (p.Ile49Asn) variant details
- p.Ile49Asn
- gnomAD rs1365395098
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.58
- CADD 24.50
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available