A39S (p.Ala39Ser) variant of FLNA (Filamin-A)
A39S (p.Ala39Ser) 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; Heterotopia, periventricular, X-linked dominant; Me. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- rs2067803076
- ClinGen CA415255497
- ClinVar RCV001217843
- Ensembl rs2067803076
- Uncertain significance
- Frontometaphyseal dysplasia; Heterotopia, periventricular, X-linked dominant; Me
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.70
- CADD 24.00
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Heterotopia, periventricular, X-lin)
- EBI: Variant of uncertain significance (in PVNH1)
- UniProt: Uncertain significance (in PVNH1)
- Population evidence available
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)