E32K (p.Glu32Lys) variant of FLNA (Filamin-A)
E32K (p.Glu32Lys) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl. 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.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs1557180220
- ClinGen CA415255610
- ClinVar RCV003088826
- ClinVar RCV004540555
- Uncertain significance
- Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia; Melnick-Needl
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.74
- CADD 24.90
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)