L57P (p.Leu57Pro) variant of TNNC1 (P63316)
L57P (p.Leu57Pro) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
L57P (p.Leu57Pro) variant details
- p.Leu57Pro
- gnomAD 19-55156325-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.828
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available
- Literature evidence available