P207S (p.Pro207Ser) variant of FLNA (Filamin-A)
P207S (p.Pro207Ser) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
P207S (p.Pro207Ser) variant details
- p.Pro207Ser
- rs1603363256
- ClinGen CA415248968
- ClinVar RCV002235548
- Ensembl rs1603363256
- Uncertain significance
- Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type II; Heterotopia
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- AlphaMissense 0.95
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Oto-palato-digital syndrome, type I)
- EBI: Variant of uncertain significance (in OPD1)
- UniProt: Uncertain significance (in OPD1)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)