G49V (p.Gly49Val) variant of TNNC1 (P63316)
G49V (p.Gly49Val) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G49V (p.Gly49Val) variant details
- p.Gly49Val
- rs3729711
- gnomAD 19-55156279-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 12.40
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available