E76D (p.Glu76Asp) variant of TNNC1 (P63316)
E76D (p.Glu76Asp) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
E76D (p.Glu76Asp) variant details
- p.Glu76Asp
- gnomAD 19-55156231-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.20
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available