Q1200P (p.Gln1200Pro) variant of SMARCA2 (P51531)
Q1200P (p.Gln1200Pro) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
Q1200P (p.Gln1200Pro) variant details
- p.Gln1200Pro
- rs1823198138
- ClinGen CA372788943
- ClinVar RCV001253448
- Ensembl rs1823198138
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- AlphaMissense 0.98
- MetaLR 0.64
- MetaSVM 0.44
- PolyPhen-2 0.99
- SIFT 0.02
- EVE 0.76
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)