M4T (p.Met4Thr) variant of SOX2 (Transcription factor SOX-2)
M4T (p.Met4Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4T (p.Met4Thr) variant details
- p.Met4Thr
- gnomAD 3-181712371-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.732
- REVEL 0.76
- MetaLR 0.84
- MetaSVM 0.60
- CADD 23.80
- PolyPhen-2 0.22
- SIFT 0.02
- Population evidence available
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.53
- Literature evidence available