C210F (p.Cys210Phe) variant of FLNA (Filamin-A)
C210F (p.Cys210Phe) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Oto-palato-digital syndrome, type II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
C210F (p.Cys210Phe) variant details
- p.Cys210Phe
- rs137853318
- ClinGen CA256064
- ClinVar RCV000012540
- UniProt VAR 058720
- Pathogenic
- Oto-palato-digital syndrome, type II
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.92
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Oto-palato-digital syndrome, type II)
- EBI: Pathogenic (in OPD2)
- UniProt: Pathogenic (in OPD2)
- Structural context available
- Cited in: Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and… (PMID 17431908)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)