P38P (p.Pro38Pro) variant of SOX2 (Transcription factor SOX-2)
P38P (p.Pro38Pro) in SOX2 (Transcription factor SOX-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38P (p.Pro38Pro) variant details
- p.Pro38Pro
- gnomAD 3-181712474-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 13.30
- 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