G1576R (p.Gly1576Arg) variant of FLNA (Filamin-A)
G1576R (p.Gly1576Arg) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Heterotopia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G1576R (p.Gly1576Arg) variant details
- p.Gly1576Arg
- rs797045044
- ClinGen CA250342
- ClinVar RCV000191086
- ClinVar RCV000794294
- Pathogenic/Likely pathogenic
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.97
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)