M62V (p.Met62Val) variant of FLNB (Filamin-B)
M62V (p.Met62Val) in FLNB (Filamin-B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M62V (p.Met62Val) variant details
- p.Met62Val
- rs566615110
- ClinGen CA353413171
- ClinVar RCV003688236
- 1000Genomes rs566615110
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- REVEL 0.78
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- FLNB Filamin/ABP280 repeat-like domain domainome 1.0: score -0.0691