P625L (p.Pro625Leu) variant of SMARCA2 (P51531)
P625L (p.Pro625Leu) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Blepharophimosis-impaired intellectual development syndrome. The record also includes structural context.
P625L (p.Pro625Leu) variant details
- p.Pro625Leu
- rs2537310121
- ClinGen CA372783203
- ClinVar RCV002776548
- Likely pathogenic
- Blepharophimosis-impaired intellectual development syndrome
- Missense
- ClinVar: Likely pathogenic (Blepharophimosis-impaired intellectual development syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available