P2S (p.Pro2Ser) variant of FLNB (Filamin-B)
P2S (p.Pro2Ser) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- ExAC rs758201060
- TOPMed rs758201060
- gnomAD rs758201060
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.66
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:DRUZE population (allele frequency 0.015)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.479