D203Y (p.Asp203Tyr) variant of FLNA (Filamin-A)
D203Y (p.Asp203Tyr) 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 I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
D203Y (p.Asp203Tyr) variant details
- p.Asp203Tyr
- rs137853314
- ClinGen CA256060
- ClinVar RCV000012532
- UniProt VAR 031308
- Pathogenic
- Oto-palato-digital syndrome, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- AlphaMissense 0.99
- MetaLR 0.90
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.60
- ClinVar: Pathogenic (Oto-palato-digital syndrome, type I)
- EBI: Pathogenic (in OPD1)
- UniProt: Pathogenic (in OPD1)
- Structural context available
- Cited in: A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X… (PMID 15940695)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)