H56R (p.His56Arg) variant of FLNA (Filamin-A)
H56R (p.His56Arg) 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 0.78 / 1. The record also includes published literature and structural context.
H56R (p.His56Arg) variant details
- p.His56Arg
- rs2148121997
- ClinGen CA415255212
- ClinVar RCV002028814
- ClinVar RCV003389078
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.99
- MetaLR 0.78
- MetaSVM 0.63
- PolyPhen-2 0.66
- SIFT 0.00
- MutPred 0.72
- 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)