M5L (p.Met5Leu) variant of SOX2 (Transcription factor SOX-2)
M5L (p.Met5Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M5L (p.Met5Leu) variant details
- p.Met5Leu
- gnomAD 3-181712373-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.38
- MetaLR 0.76
- MetaSVM 0.19
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.37
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.663
- Literature evidence available