S1199L (p.Ser1199Leu) variant of FLNA (Filamin-A)
S1199L (p.Ser1199Leu) 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 Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, per. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
S1199L (p.Ser1199Leu) variant details
- p.Ser1199Leu
- rs28935473
- ClinGen CA341132
- NCI-TCGA Cosmic COSV6104
- cosmic curated COSV61040
- Pathogenic/Likely pathogenic
- Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Heterotopia, per
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- AlphaMissense 0.38
- MetaLR 0.89
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.28
- ClinVar: Pathogenic/Likely pathogenic (Oto-palato-digital syndrome, type II; Melnick-Needles syndrome;)
- EBI: Pathogenic (in MNS)
- UniProt: Pathogenic (in MNS)
- 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)