L78V (p.Leu78Val) variant of TNNC1 (P63316)
L78V (p.Leu78Val) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L78V (p.Leu78Val) variant details
- p.Leu78Val
- gnomAD 19-55156257-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.75
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available