R43R (p.Arg43Arg) variant of SOX2 (Transcription factor SOX-2)
R43R (p.Arg43Arg) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R43R (p.Arg43Arg) variant details
- p.Arg43Arg
- rs765982831
- gnomAD 3-181712487-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 1.02
- CADD 15.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.352
- Literature evidence available