R24G (p.Arg24Gly) variant of FLNA (Filamin-A)
R24G (p.Arg24Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FLNA-related disorder; Heterotopia, periventricular, X-linked dominant; Oto-pala. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
R24G (p.Arg24Gly) variant details
- p.Arg24Gly
- rs1164930154
- ClinGen CA415255706
- ClinVar RCV001307455
- ClinVar RCV004527819
- Uncertain significance
- FLNA-related disorder; Heterotopia, periventricular, X-linked dominant; Oto-pala
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- AlphaMissense 0.25
- MetaLR 0.26
- MetaSVM -0.56
- PolyPhen-2 0.27
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (FLNA-related disorder; Heterotopia, periventricular, X-linked do)
- 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)