V80M (p.Val80Met) variant of FLNB (Filamin-B)
V80M (p.Val80Met) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V80M (p.Val80Met) variant details
- p.Val80Met
- gnomAD rs1170343161
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.88
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.31