L78Q (p.Leu78Gln) variant of TNNC1 (P63316)
L78Q (p.Leu78Gln) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
L78Q (p.Leu78Gln) variant details
- p.Leu78Gln
- gnomAD 19-55156256-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.83
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available