V41A (p.Val41Ala) variant of SOX2 (Transcription factor SOX-2)
V41A (p.Val41Ala) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V41A (p.Val41Ala) variant details
- p.Val41Ala
- gnomAD rs1266692268
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- REVEL 0.76
- MetaLR 0.95
- MetaSVM 1.05
- CADD 29.10
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.596