V82E (p.Val82Glu) variant of TNNC1 (P63316)
V82E (p.Val82Glu) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V82E (p.Val82Glu) variant details
- p.Val82Glu
- gnomAD 19-55154802-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.78
- CADD 29.80
- PolyPhen-2 0.81
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available