V41I (p.Val41Ile) variant of SOX2 (Transcription factor SOX-2)
V41I (p.Val41Ile) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- gnomAD 3-181712481-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.48
- MetaLR 0.76
- MetaSVM 0.56
- CADD 24.10
- PolyPhen-2 0.25
- SIFT 0.08
- 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
- Literature evidence available