D66E (p.Asp66Glu) variant of FLNC (Filamin-C)
D66E (p.Asp66Glu) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
D66E (p.Asp66Glu) variant details
- p.Asp66Glu
- gnomAD 7-128830835-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.68
- MetaLR 0.63
- MetaSVM 0.24
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available