M75L (p.Met75Leu) variant of FLNB (Filamin-B)
M75L (p.Met75Leu) 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, published literature, and structural context.
M75L (p.Met75Leu) variant details
- p.Met75Leu
- gnomAD 3-58008787-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.76
- CADD 25.00
- PolyPhen-2 0.16
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.093
- Literature evidence available