I49L (p.Ile49Leu) variant of TNNI1 (Troponin I, slow skeletal muscle)
I49L (p.Ile49Leu) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
I49L (p.Ile49Leu) variant details
- p.Ile49Leu
- TOPMed rs1488949215
- gnomAD rs1488949215
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.24
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available