A15S (p.Ala15Ser) variant of FLNA (Filamin-A)
A15S (p.Ala15Ser) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- rs782034946
- ClinGen CA415255822
- ClinVar RCV003780656
- Uncertain significance
- Oto-palato-digital syndrome, type II; Heterotopia, periventricular, X-linked dom
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.24
- CADD 18.10
- PolyPhen-2 0.05
- SIFT 0.88
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Heterotopia, periventricul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)