H56Q (p.His56Gln) variant of FLNA (Filamin-A)
H56Q (p.His56Gln) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
H56Q (p.His56Gln) variant details
- p.His56Gln
- rs1569551928
- NCI-TCGA TCGA novel
- ClinGen CA415255203
- ClinVar RCV001548176
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- AlphaMissense 0.99
- MetaLR 0.71
- MetaSVM 0.39
- PolyPhen-2 0.80
- SIFT 0.00
- MutPred 0.69
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- 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)