D59Y (p.Asp59Tyr) variant of FLNC (Filamin-C)
D59Y (p.Asp59Tyr) in FLNC (Filamin-C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
D59Y (p.Asp59Tyr) variant details
- p.Asp59Tyr
- gnomAD 7-128830812-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.71
- MetaLR 0.56
- MetaSVM 0.28
- CADD 30.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available