P14L (p.Pro14Leu) variant of SOX2 (Transcription factor SOX-2)
P14L (p.Pro14Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- 1000Genomes rs530339252
- ExAC rs530339252
- gnomAD rs530339252
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.61
- MetaLR 0.81
- MetaSVM 0.65
- CADD 23.00
- PolyPhen-2 0.41
- SIFT 0.05
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.694