S23C (p.Ser23Cys) variant of FLNC (Filamin-C)
S23C (p.Ser23Cys) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S23C (p.Ser23Cys) variant details
- p.Ser23Cys
- gnomAD 7-128830705-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.11
- CADD 24.90
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available