H56Y (p.His56Tyr) variant of FLNA (Filamin-A)
H56Y (p.His56Tyr) 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 I; Heterotopia, periventricular, X-linked domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
H56Y (p.His56Tyr) variant details
- p.His56Tyr
- rs2522771675
- ClinGen CA415255217
- ClinVar RCV003152872
- ClinVar RCV006561105
- Uncertain significance
- Oto-palato-digital syndrome, type I; Heterotopia, periventricular, X-linked domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.793
- REVEL 0.89
- CADD 27.50
- PolyPhen-2 0.71
- SIFT 0.00
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type I; Heterotopia, periventricula)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)