F113S (p.Phe113Ser) variant of FLNA (Filamin-A)
F113S (p.Phe113Ser) 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 0.91 / 1. The record also includes published literature and structural context.
F113S (p.Phe113Ser) variant details
- p.Phe113Ser
- rs1557180178
- ClinGen CA415254289
- ClinVar RCV002232255
- Ensembl rs1557180178
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.912
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.68
- 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)