P14T (p.Pro14Thr) variant of SOX2 (Transcription factor SOX-2)
P14T (p.Pro14Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P14T (p.Pro14Thr) variant details
- p.Pro14Thr
- gnomAD 3-181712400-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.51
- MetaLR 0.80
- MetaSVM 0.62
- CADD 21.70
- PolyPhen-2 0.20
- SIFT 0.04
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.694
- Literature evidence available