D59H (p.Asp59His) variant of FLNC (Filamin-C)
D59H (p.Asp59His) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
D59H (p.Asp59His) variant details
- p.Asp59His
- gnomAD 7-128830812-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.51
- MetaLR 0.46
- MetaSVM -0.03
- CADD 29.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available