A79A (p.Ala79Ala) variant of FLNA (Filamin-A)
A79A (p.Ala79Ala) in FLNA (Filamin-A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A79A (p.Ala79Ala) variant details
- p.Ala79Ala
- gnomAD X-154348689-G-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 4.98
- Population evidence available
- Structural context available
- Literature evidence available