S3G (p.Ser3Gly) variant of FLNA (Filamin-A)
S3G (p.Ser3Gly) 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; Oto-palato-digital syndrome, type II; Heterotopia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S3G (p.Ser3Gly) variant details
- p.Ser3Gly
- rs1430045418
- ClinGen CA415255933
- ClinVar RCV002235328
- TOPMed rs1430045418
- Uncertain significance
- Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.24
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)