E66A (p.Glu66Ala) variant of TNNC1 (P63316)
E66A (p.Glu66Ala) in TNNC1 (P63316) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E66A (p.Glu66Ala) variant details
- p.Glu66Ala
- gnomAD 19-55156286-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.31
- CADD 23.00
- PolyPhen-2 0.22
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- Literature evidence available