E59Q (p.Glu59Gln) variant of TNNC1 (P63316)
E59Q (p.Glu59Gln) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
E59Q (p.Glu59Gln) variant details
- p.Glu59Gln
- rs776162352
- gnomAD 19-55156305-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.66
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.45
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available