M5T (p.Met5Thr) variant of SOX2 (Transcription factor SOX-2)
M5T (p.Met5Thr) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M5T (p.Met5Thr) variant details
- p.Met5Thr
- gnomAD 3-181712374-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.65
- MetaLR 0.86
- MetaSVM 0.81
- CADD 23.70
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.663
- Literature evidence available