S297F (p.Ser297Phe) variant of ARID2 (Q68CP9)
S297F (p.Ser297Phe) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Coffin-Siris syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
S297F (p.Ser297Phe) variant details
- p.Ser297Phe
- rs2138127522
- ClinGen CA384452845
- NCI-TCGA Cosmic COSV5759
- cosmic curated COSV57595
- Likely pathogenic
- Coffin-Siris syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 1.00
- MetaLR 0.37
- MetaSVM -0.34
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.47
- ClinVar: Likely pathogenic (Coffin-Siris syndrome 6)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Coffin-Siris Syndrome. (PMID 23556151)