D534G (p.Asp534Gly) variant of SMARCA2 (P51531)
D534G (p.Asp534Gly) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Blepharophimosis-impaired intellectual development syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
D534G (p.Asp534Gly) variant details
- p.Asp534Gly
- rs2130363709
- ClinGen CA372782554
- ClinVar RCV003238485
- Ensembl rs2130363709
- Likely pathogenic
- not provided; Blepharophimosis-impaired intellectual development syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- AlphaMissense 0.99
- MetaLR 0.41
- MetaSVM -0.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided; Blepharophimosis-impaired intellectual development)
- EBI: Likely pathogenic (in BIS)
- UniProt: Likely pathogenic (in BIS)
- Structural context available