E32G (p.Glu32Gly) variant of FLNA (Filamin-A)
E32G (p.Glu32Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontometaphyseal dysplasia; Heterotopia, periventricular, X-linked dominant; Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes published literature and structural context.
E32G (p.Glu32Gly) variant details
- p.Glu32Gly
- rs2067803278
- ClinGen CA415255605
- ClinVar RCV001203099
- ClinVar RCV005866854
- Uncertain significance
- Frontometaphyseal dysplasia; Heterotopia, periventricular, X-linked dominant; Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- AlphaMissense 0.94
- MetaLR 0.82
- MetaSVM 0.73
- PolyPhen-2 0.40
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Heterotopia, periventricular, X-lin)
- 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)