A12S (p.Ala12Ser) variant of FLNB (Filamin-B)
A12S (p.Ala12Ser) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 3-58008598-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.77
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.49
- Literature evidence available