P2L (p.Pro2Leu) variant of FLNB (Filamin-B)
P2L (p.Pro2Leu) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- gnomAD 3-58008569-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.67
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.479
- Literature evidence available