M154R (p.Met154Arg) variant of FLNA (Filamin-A)
M154R (p.Met154Arg) 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 0.63 / 1. The record also includes published literature and structural context.
M154R (p.Met154Arg) variant details
- p.Met154Arg
- rs782240483
- ClinGen CA415250439
- ClinVar RCV003801396
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- AlphaMissense 0.32
- MetaLR 0.74
- MetaSVM 0.38
- PolyPhen-2 0.08
- SIFT 0.01
- MutPred 0.32
- 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)