D16E (p.Asp16Glu) variant of FLNC (Filamin-C)
D16E (p.Asp16Glu) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D16E (p.Asp16Glu) variant details
- p.Asp16Glu
- gnomAD 7-128830685-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.06
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available