M5V (p.Met5Val) variant of SOX2 (Transcription factor SOX-2)
M5V (p.Met5Val) 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.
M5V (p.Met5Val) variant details
- p.Met5Val
- gnomAD 3-181712373-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.49
- MetaLR 0.85
- MetaSVM 0.74
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.663
- Literature evidence available