T91A (p.Thr91Ala) variant of PHF6 (PHD finger protein 6)
T91A (p.Thr91Ala) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Borjeson-Forssman-Lehmann syndrome. The record also includes structural context.
T91A (p.Thr91Ala) variant details
- p.Thr91Ala
- cosmic curated COSV10524
- Uncertain significance
- Borjeson-Forssman-Lehmann syndrome
- Missense
- ClinVar: Uncertain significance (Borjeson-Forssman-Lehmann syndrome)
- UniProt: Uncertain significance
- Structural context available