R40R (p.Arg40Arg) variant of SOX2 (Transcription factor SOX-2)
R40R (p.Arg40Arg) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R40R (p.Arg40Arg) variant details
- p.Arg40Arg
- rs1324894998
- gnomAD 3-181712480-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 13.00
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.558
- Literature evidence available