Q1165K (p.Gln1165Lys) variant of SMARCA2 (P51531)
Q1165K (p.Gln1165Lys) 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 0.85 / 1. The record also includes published literature and structural context.
Q1165K (p.Gln1165Lys) variant details
- p.Gln1165Lys
- rs797045976
- ClinGen CA212536
- ClinVar RCV000194318
- Ensembl rs797045976
- Likely pathogenic
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- AlphaMissense 0.78
- MetaLR 0.86
- MetaSVM 1.01
- PolyPhen-2 0.95
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Nicolaides-Baraitser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)