E66Q (p.Glu66Gln) variant of TNNC1 (P63316)
E66Q (p.Glu66Gln) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E66Q (p.Glu66Gln) variant details
- p.Glu66Gln
- rs1253836774
- gnomAD 19-55156287-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available