M62R (p.Met62Arg) variant of FLNB (Filamin-B)
M62R (p.Met62Arg) in FLNB (Filamin-B) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M62R (p.Met62Arg) variant details
- p.Met62Arg
- gnomAD 3-58008749-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0691
- Literature evidence available