N66Y (p.Asn66Tyr) variant of FLNA (Filamin-A)
N66Y (p.Asn66Tyr) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
N66Y (p.Asn66Tyr) variant details
- p.Asn66Tyr
- rs1569551926
- ClinGen CA415255048
- ClinVar RCV002233343
- Ensembl rs1569551926
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- AlphaMissense 0.75
- MetaLR 0.94
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Melnick-Needles)
- 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)