G288R (p.Gly288Arg) variant of FLNA (Filamin-A)
G288R (p.Gly288Arg) 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; Melnick-Needles syndrome; Heterotopia, per. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
G288R (p.Gly288Arg) variant details
- p.Gly288Arg
- rs267606816
- ClinGen CA121667
- ClinVar RCV000012544
- ClinVar RCV004820820
- Pathogenic/Likely pathogenic
- Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, per
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.90
- CADD 24.20
- PolyPhen-2 0.34
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Oto-palato-digital syndrome, type II; Melnick-Needles syndrome;)
- EBI: Pathogenic (in CVDPX)
- UniProt: Pathogenic (in CVDPX)
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. (PMID 17190868)
- Cited in: Sex linked valvular dysplasia. (PMID 8230166)