G13V (p.Gly13Val) variant of SOX2 (Transcription factor SOX-2)
G13V (p.Gly13Val) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G13V (p.Gly13Val) variant details
- p.Gly13Val
- Ensembl rs1714835287
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.36
- MetaLR 0.73
- MetaSVM 0.22
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.147