P1223L (p.Pro1223Leu) variant of FLNA (Filamin-A)
P1223L (p.Pro1223Leu) 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; Oto-palato-digital syndrome, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
P1223L (p.Pro1223Leu) variant details
- p.Pro1223Leu
- rs1060500716
- ClinGen CA16616451
- ClinVar RCV002230317
- Ensembl rs1060500716
- Pathogenic
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- AlphaMissense 0.84
- MetaLR 0.93
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.62
- ClinVar: Pathogenic (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)