L48M (p.Leu48Met) variant of TNNC1 (P63316)
L48M (p.Leu48Met) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
L48M (p.Leu48Met) variant details
- p.Leu48Met
- gnomAD 19-55156329-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.70
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available