H90Y (p.His90Tyr) variant of FLNA (Filamin-A)
H90Y (p.His90Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
H90Y (p.His90Tyr) variant details
- p.His90Tyr
- rs2148121905
- ClinGen CA415254661
- ClinVar RCV001965630
- Ensembl rs2148121905
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- AlphaMissense 0.05
- MetaLR 0.36
- MetaSVM -0.43
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.47
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)