A52V (p.Ala52Val) variant of FLNB (Filamin-B)
A52V (p.Ala52Val) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- gnomAD 3-58008719-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.83
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.118
- Literature evidence available