P38R (p.Pro38Arg) variant of SOX2 (Transcription factor SOX-2)
P38R (p.Pro38Arg) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- gnomAD 3-181712473-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.43
- MetaLR 0.74
- MetaSVM 0.41
- CADD 20.80
- PolyPhen-2 0.26
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.383
- Literature evidence available