L140F (p.Leu140Phe) variant of FLNA (Filamin-A)
L140F (p.Leu140Phe) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations 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 0.94 / 1. The record also includes published literature and structural context.
L140F (p.Leu140Phe) variant details
- p.Leu140Phe
- rs2148119483
- ClinGen CA415250818
- ClinVar RCV001808991
- ClinVar RCV002542437
- Conflicting interpretations
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.939
- AlphaMissense 0.96
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.74
- ClinVar: Conflicting classifications of pathogenicity (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)