R43W (p.Arg43Trp) variant of SOX2 (Transcription factor SOX-2)
R43W (p.Arg43Trp) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes experimental measurements and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs765982831
- ClinGen CA355473179
- ClinVar RCV000520284
- ExAC rs765982831
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.971
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.352