R1306K (p.Arg1306Lys) variant of SMARCA2 (P51531)
R1306K (p.Arg1306Lys) in SMARCA2 (P51531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Nicolaides-Baraitser syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes published literature and structural context.
R1306K (p.Arg1306Lys) variant details
- p.Arg1306Lys
- rs1057518983
- ClinVar RCV000415335
- Ensembl rs1057518983
- no classification for the single variant
- Nicolaides-Baraitser syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- AlphaMissense 0.42
- MetaLR 0.81
- MetaSVM 0.68
- PolyPhen-2 0.97
- SIFT 0.02
- EVE 0.33
- ClinVar: no classification for the single variant
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SMARCA2-Related Nicolaides-Baraitser Syndrome. (PMID 26468571)