P11L (p.Pro11Leu) variant of SOX2 (Transcription factor SOX-2)
P11L (p.Pro11Leu) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs1237319490
- NCI-TCGA Cosmic COSV5762
- TOPMed rs1237319490
- gnomAD rs1237319490
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.501
- REVEL 0.58
- MetaLR 0.75
- MetaSVM 0.44
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.469