T48P (p.Thr48Pro) variant of FLNA (Filamin-A)
T48P (p.Thr48Pro) in FLNA (Filamin-A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Frontometaphysea. The record also includes published literature and structural context.
T48P (p.Thr48Pro) variant details
- p.Thr48Pro
- rs2522771740
- ClinGen CA415255357
- ClinVar RCV002832867
- Uncertain significance
- Oto-palato-digital syndrome, type II; Melnick-Needles syndrome; Frontometaphysea
- Missense
- ClinVar: Uncertain significance (Oto-palato-digital syndrome, type II; Melnick-Needles syndrome;)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FLNA Deficiency. (PMID 20301392)
- Cited in: FLNA-Related Otopalatodigital Spectrum Disorders. (PMID 20301567)