W155G (p.Trp155Gly) variant of FLNA (Filamin-A)
W155G (p.Trp155Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
W155G (p.Trp155Gly) variant details
- p.Trp155Gly
- rs2148119440
- ClinGen CA415250400
- ClinVar RCV002033374
- Ensembl rs2148119440
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- AlphaMissense 0.92
- MetaLR 0.83
- MetaSVM 0.64
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)