M4L (p.Met4Leu) variant of SOX2 (Transcription factor SOX-2)
M4L (p.Met4Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- gnomAD 3-181712370-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.48
- MetaLR 0.86
- MetaSVM 0.73
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.53
- Literature evidence available