E66D (p.Glu66Asp) variant of TNNC1 (P63316)
E66D (p.Glu66Asp) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E66D (p.Glu66Asp) variant details
- p.Glu66Asp
- rs3729710
- gnomAD 19-55156285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.35
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available