S2C (p.Ser2Cys) variant of FLNA (Filamin-A)
S2C (p.Ser2Cys) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Oto-palato-digital syndrome, type II; Heterotopia, periventricula. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
S2C (p.Ser2Cys) variant details
- p.Ser2Cys
- rs1391610154
- ClinGen CA415255949
- ClinVar RCV003404926
- ClinVar RCV006561602
- Uncertain significance
- not specified; Oto-palato-digital syndrome, type II; Heterotopia, periventricula
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.40
- CADD 28.10
- PolyPhen-2 0.67
- SIFT 0.01
- ClinVar: Uncertain significance (not specified; Oto-palato-digital syndrome, type II; Heterotopia)
- 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)