T439A (p.Thr439Ala) variant of FBXW7 (Q969H0)
T439A (p.Thr439Ala) in FBXW7 (Q969H0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental delay, hypotonia, and impaired language. The record also includes structural context.
T439A (p.Thr439Ala) variant details
- p.Thr439Ala
- rs2530191471
- ClinGen CA358618930
- ClinVar RCV003387671
- Likely pathogenic
- Developmental delay, hypotonia, and impaired language
- Missense
- ClinVar: Likely pathogenic (Developmental delay, hypotonia, and impaired language)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available