E63G (p.Glu63Gly) variant of TNNC1 (P63316)
E63G (p.Glu63Gly) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E63G (p.Glu63Gly) variant details
- p.Glu63Gly
- rs2085729352
- gnomAD 19-55156298-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.85
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available