C59Y (p.Cys59Tyr) variant of FLNA (Filamin-A)
C59Y (p.Cys59Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
C59Y (p.Cys59Tyr) variant details
- p.Cys59Tyr
- ExAC rs782769930
- gnomAD rs782769930
- Uncertain significance
- Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.87
- CADD 29.40
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotop)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available