G132R (p.Gly132Arg) variant of FLNA (Filamin-A)
G132R (p.Gly132Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.96 / 1. The record also includes published literature and structural context.
G132R (p.Gly132Arg) variant details
- p.Gly132Arg
- rs1085307783
- ClinGen CA415251018
- ClinVar RCV000489668
- ClinVar RCV006556079
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.961
- AlphaMissense 1.00
- MetaLR 0.95
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)