M28I (p.Met28Ile) variant of FLNA (Filamin-A)
M28I (p.Met28Ile) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.53 / 1. The record also includes published literature and structural context.
M28I (p.Met28Ile) variant details
- p.Met28Ile
- rs1603363939
- ClinGen CA415255639
- ClinVar RCV002234234
- Ensembl rs1603363939
- Likely pathogenic
- Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Front
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- AlphaMissense 0.88
- MetaLR 0.58
- MetaSVM 0.23
- PolyPhen-2 0.39
- SIFT 0.05
- MutPred 0.15
- ClinVar: Likely pathogenic (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)