M62I (p.Met62Ile) variant of FLNB (Filamin-B)
M62I (p.Met62Ile) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M62I (p.Met62Ile) variant details
- p.Met62Ile
- gnomAD 3-58008750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.77
- CADD 29.90
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0691
- Literature evidence available