L57M (p.Leu57Met) variant of TNNC1 (P63316)
L57M (p.Leu57Met) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L57M (p.Leu57Met) variant details
- p.Leu57Met
- gnomAD 19-55156302-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.35
- CADD 21.40
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available