S61N (p.Ser61Asn) variant of FLNA (Filamin-A)
S61N (p.Ser61Asn) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S61N (p.Ser61Asn) variant details
- p.Ser61Asn
- rs1557180197
- ClinGen CA415255127
- cosmic curated COSV10967
- ClinVar RCV001299481
- Uncertain significance
- Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palato-digital syndro
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.38
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Frontometaphyseal dysplasia; Melnick-Needles syndrome; Oto-palat)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)