E254K (p.Glu254Lys) variant of FLNA (Filamin-A)
E254K (p.Glu254Lys) 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 X-linked otopalatodigital spectrum disorders; Frontometaphyseal dysplasia; Oto-p. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
E254K (p.Glu254Lys) variant details
- p.Glu254Lys
- rs28935470
- ClinGen CA221728
- ClinVar RCV000012522
- ClinVar RCV000178843
- Pathogenic/Likely pathogenic
- X-linked otopalatodigital spectrum disorders; Frontometaphyseal dysplasia; Oto-p
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.72
- ClinVar: Pathogenic/Likely pathogenic (X-linked otopalatodigital spectrum disorders; Frontometaphyseal)
- EBI: Pathogenic (in OPD2)
- UniProt: Pathogenic (in OPD2)
- 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)