W155S (p.Trp155Ser) variant of FLNA (Filamin-A)
W155S (p.Trp155Ser) 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 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
W155S (p.Trp155Ser) variant details
- p.Trp155Ser
- rs1557179668
- ClinGen CA415250398
- ClinVar RCV002232262
- Ensembl rs1557179668
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- REVEL 0.75
- CADD 25.00
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)