A39G (p.Ala39Gly) variant of FLNA (Filamin-A)
A39G (p.Ala39Gly) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Heterotopia, periventricular, X-linked dominant. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
A39G (p.Ala39Gly) variant details
- p.Ala39Gly
- rs137853313
- ClinGen CA256059
- ClinVar RCV000012531
- UniProt VAR 022734
- Pathogenic
- Heterotopia, periventricular, X-linked dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- AlphaMissense 0.96
- MetaLR 0.84
- MetaSVM 0.72
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Pathogenic (Heterotopia, periventricular, X-linked dominant)
- EBI: Pathogenic (in PVNH1)
- UniProt: Pathogenic (in PVNH1)
- Structural context available
- Cited in: Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. (PMID 15668422)
- Cited in: FLNA Deficiency. (PMID 20301392)