S118N (p.Ser118Asn) variant of FLNA (Filamin-A)
S118N (p.Ser118Asn) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S118N (p.Ser118Asn) variant details
- p.Ser118Asn
- rs1406549914
- ClinGen CA415254216
- ClinVar RCV001930557
- TOPMed rs1406549914
- Uncertain significance
- Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotopia, periventricu
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.30
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Melnick-Needles syndrome; Frontometaphyseal dysplasia; Heterotop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)