S1186L (p.Ser1186Leu) variant of FLNA (Filamin-A)
S1186L (p.Ser1186Leu) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Heterotopia, periventricular, X-linked dominant; Frontometaphyseal dysplasia; Ot. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
S1186L (p.Ser1186Leu) variant details
- p.Ser1186Leu
- rs137853312
- ClinGen CA256058
- ClinVar RCV000012527
- ClinVar RCV000414151
- Pathogenic/Likely pathogenic
- Heterotopia, periventricular, X-linked dominant; Frontometaphyseal dysplasia; Ot
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.71
- CADD 23.10
- ClinVar: Pathogenic/Likely pathogenic (Heterotopia, periventricular, X-linked dominant; Frontometaphyse)
- EBI: Pathogenic (in FMD1)
- UniProt: Pathogenic (in FMD1)
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. (PMID 12612583)
- Cited in: A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously… (PMID 15523633)