R24W (p.Arg24Trp) variant of FLNA (Filamin-A)
R24W (p.Arg24Trp) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs1164930154
- ClinGen CA415255704
- ClinVar RCV001556324
- ClinVar RCV002235316
- Uncertain significance
- Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.29
- AlphaMissense 0.25
- MetaLR 0.26
- MetaSVM -0.56
- CADD 24.50
- PolyPhen-2 0.27
- 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 3.6e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)