P883Q (p.Pro883Gln) variant of SMARCA2 (P51531)
P883Q (p.Pro883Gln) 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 0.86 / 1. The record also includes published literature and structural context.
P883Q (p.Pro883Gln) variant details
- p.Pro883Gln
- rs281875188
- ClinGen CA372785060
- ClinVar RCV000504162
- Ensembl rs281875188
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.01
- PolyPhen-2 0.01
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Pathogenic (in NCBRS)
- UniProt: Pathogenic (in NCBRS)
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)