P52H (p.Pro52His) variant of TNNC1 (P63316)
P52H (p.Pro52His) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P52H (p.Pro52His) variant details
- p.Pro52His
- gnomAD 19-55156342-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- CADD 9.66
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available