E17D (p.Glu17Asp) variant of FLNC (Filamin-C)
E17D (p.Glu17Asp) 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 0.23 / 1. The record also includes population frequency data and structural context.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- ExAC rs753490528
- TOPMed rs753490528
- gnomAD rs753490528
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.43
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available