D7V (p.Asp7Val) variant of FLNB (Filamin-B)
D7V (p.Asp7Val) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D7V (p.Asp7Val) variant details
- p.Asp7Val
- ExAC rs781272365
- gnomAD rs781272365
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.91
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.204