D63E (p.Asp63Glu) variant of FLNC (Filamin-C)
D63E (p.Asp63Glu) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
D63E (p.Asp63Glu) variant details
- p.Asp63Glu
- ExAC rs753437430
- gnomAD rs753437430
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.13
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available