G30L (p.Gly30Leu) variant of TNNC1 (P63316)
G30L (p.Gly30Leu) in TNNC1 (P63316) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G30L (p.Gly30Leu) variant details
- p.Gly30Leu
- gnomAD 19-55156359-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.584
- CADD 0.64
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available