P12L (p.Pro12Leu) variant of SOX2 (Transcription factor SOX-2)
P12L (p.Pro12Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P12L (p.Pro12Leu) variant details
- p.Pro12Leu
- gnomAD rs1386727504
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.74
- MetaLR 0.91
- MetaSVM 0.98
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16