H34Q (p.His34Gln) variant of TNNI1 (Troponin I, slow skeletal muscle)
H34Q (p.His34Gln) in TNNI1 (Troponin I, slow skeletal muscle) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H34Q (p.His34Gln) variant details
- p.His34Gln
- gnomAD 1-201414605-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.24
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available