H34L (p.His34Leu) variant of TNNI3 (Troponin I, cardiac muscle)
H34L (p.His34Leu) in TNNI3 (Troponin I, cardiac muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
H34L (p.His34Leu) variant details
- p.His34Leu
- ExAC rs759949951
- gnomAD rs759949951
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.51
- MetaLR 0.73
- MetaSVM 0.43
- CADD 20.30
- PolyPhen-2 0.06
- SIFT 0.25
- Population evidence available
- Structural context available