E82V (p.Glu82Val) variant of FLNA (Filamin-A)
E82V (p.Glu82Val) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, per. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E82V (p.Glu82Val) variant details
- p.Glu82Val
- rs28935169
- ClinGen CA256055
- ClinVar RCV000012520
- ClinVar RCV003764561
- Pathogenic
- Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, per
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 0.04
- SIFT 0.00
- MutPred 0.92
- ClinVar: Pathogenic (Oto-palato-digital syndrome, type II; Melnick-Needles syndrome;)
- EBI: Pathogenic (in PVNH1)
- UniProt: Pathogenic (in PVNH1)
- Structural context available
- Cited in: Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. (PMID 11914408)
- Cited in: FLNA Deficiency. (PMID 20301392)