C52W (p.Cys52Trp) variant of FLNC (Filamin-C)
C52W (p.Cys52Trp) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
C52W (p.Cys52Trp) variant details
- p.Cys52Trp
- gnomAD 7-128830793-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -0.99
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Literature evidence available