D11N (p.Asp11Asn) variant of FLNB (Filamin-B)
D11N (p.Asp11Asn) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D11N (p.Asp11Asn) variant details
- p.Asp11Asn
- ExAC rs772777005
- TOPMed rs772777005
- gnomAD rs772777005
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.83
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.9e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score 0.0851