A128V (p.Ala128Val) variant of FLNA (Filamin-A)
A128V (p.Ala128Val) 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 0.81 / 1. The record also includes published literature and structural context.
A128V (p.Ala128Val) variant details
- p.Ala128Val
- rs137853315
- ClinGen CA256061
- ClinVar RCV000012533
- ClinVar RCV005887458
- Pathogenic
- Heterotopia, periventricular, X-linked dominant
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.93
- PolyPhen-2 0.06
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic (Heterotopia, periventricular, X-linked dominant)
- EBI: Pathogenic (in PVNH1)
- UniProt: Pathogenic (in PVNH1)
- Structural context available
- Cited in: Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. (PMID 15994863)
- Cited in: FLNA Deficiency. (PMID 20301392)