K43N (p.Lys43Asn) variant of FLNA (Filamin-A)
K43N (p.Lys43Asn) 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; Oto-palato-digital syndrome, ty. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
K43N (p.Lys43Asn) variant details
- p.Lys43Asn
- rs1569551929
- ClinGen CA415255434
- ClinVar RCV001044199
- Ensembl rs1569551929
- Uncertain significance
- Heterotopia, periventricular, X-linked dominant; Oto-palato-digital syndrome, ty
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- AlphaMissense 0.97
- MetaLR 0.82
- MetaSVM 0.63
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Uncertain significance (Heterotopia, periventricular, X-linked dominant; Oto-palato-digi)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)