I37F (p.Ile37Phe) variant of FLNC (Filamin-C)
I37F (p.Ile37Phe) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
I37F (p.Ile37Phe) variant details
- p.Ile37Phe
- gnomAD 7-128830746-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.51
- MetaLR 0.41
- MetaSVM -0.22
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available