P207L (p.Pro207Leu) variant of FLNA (Filamin-A)
P207L (p.Pro207Leu) 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 0.97 / 1. The record also includes published literature and structural context.
P207L (p.Pro207Leu) variant details
- p.Pro207Leu
- rs28935469
- ClinGen CA256056
- NCI-TCGA Cosmic COSV6104
- cosmic curated COSV61043
- Pathogenic/Likely pathogenic
- Heterotopia, periventricular, X-linked dominant; Frontometaphyseal dysplasia; Ot
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 0.92
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.93
- ClinVar: Pathogenic/Likely pathogenic (Heterotopia, periventricular, X-linked dominant; Frontometaphyse)
- EBI: Pathogenic (in OPD1)
- UniProt: Pathogenic (in OPD1)
- 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: Filamin A: phenotypic diversity. (PMID 15917206)