E76Q (p.Glu76Gln) variant of TNNC1 (P63316)
E76Q (p.Glu76Gln) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E76Q (p.Glu76Gln) variant details
- p.Glu76Gln
- rs759523214
- gnomAD 19-55156233-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.25
- CADD 16.70
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available