D156E (p.Asp156Glu) variant of FLNA (Filamin-A)
D156E (p.Asp156Glu) in FLNA (Filamin-A) 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 0.26 / 1. The record also includes population frequency data and structural context.
D156E (p.Asp156Glu) variant details
- p.Asp156Glu
- ExAC rs782657089
- gnomAD rs782657089
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.38
- CADD 0.79
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available