L54del (p.Leu54del) variant of TNNC1 (P63316)
L54del (p.Leu54del) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L54del (p.Leu54del) variant details
- gnomAD 19-55156319-TGCA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 22.80
- Population evidence available
- Structural context available
- Literature evidence available