V41L (p.Val41Leu) variant of SOX2 (Transcription factor SOX-2)
V41L (p.Val41Leu) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V41L (p.Val41Leu) variant details
- p.Val41Leu
- gnomAD rs1225885626
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.78
- MetaLR 0.95
- MetaSVM 1.07
- CADD 27.40
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.596