G18D (p.Gly18Asp) variant of FLNA (Filamin-A)
G18D (p.Gly18Asp) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Needles syndrome; Heterotopia, periventricular, X-linked dominant; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
G18D (p.Gly18Asp) variant details
- p.Gly18Asp
- rs2043950991
- ClinGen CA415255782
- ClinVar RCV003019631
- Uncertain significance
- Melnick-Needles syndrome; Heterotopia, periventricular, X-linked dominant; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- AlphaMissense 0.08
- MetaLR 0.30
- MetaSVM -0.72
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.29
- ClinVar: Uncertain significance (Melnick-Needles syndrome; Heterotopia, periventricular, X-linked)
- 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)