M4I (p.Met4Ile) variant of SOX2 (Transcription factor SOX-2)
M4I (p.Met4Ile) 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 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.66
- MetaLR 0.85
- MetaSVM 0.70
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.53