A52A (p.Ala52Ala) variant of FLNB (Filamin-B)
A52A (p.Ala52Ala) in FLNB (Filamin-B) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A52A (p.Ala52Ala) variant details
- p.Ala52Ala
- rs1331391516
- gnomAD 3-58008720-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 14.70
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.118
- Literature evidence available