P14S (p.Pro14Ser) variant of SOX2 (Transcription factor SOX-2)
P14S (p.Pro14Ser) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- Ensembl rs1380376438
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.41
- MetaLR 0.81
- MetaSVM 0.52
- CADD 21.70
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.694