D19E (p.Asp19Glu) variant of FLNC (Filamin-C)
D19E (p.Asp19Glu) in FLNC (Filamin-C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
D19E (p.Asp19Glu) variant details
- p.Asp19Glu
- ExAC rs754468596
- gnomAD rs754468596
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available