S49L (p.Ser49Leu) variant of PHF6 (PHD finger protein 6)
S49L (p.Ser49Leu) in PHF6 (PHD finger protein 6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Borjeson-Forssman-Lehmann syndrome. The record also includes structural context.
S49L (p.Ser49Leu) variant details
- p.Ser49Leu
- rs2520470317
- cosmic curated COSV10524
- NCI-TCGA TCGA novel
- ClinGen CA414710931
- Likely pathogenic
- Borjeson-Forssman-Lehmann syndrome
- Missense
- ClinVar: Likely pathogenic (Borjeson-Forssman-Lehmann syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available