M5I (p.Met5Ile) variant of SOX2 (Transcription factor SOX-2)
M5I (p.Met5Ile) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M5I (p.Met5Ile) variant details
- p.Met5Ile
- gnomAD 3-181712375-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.58
- MetaLR 0.87
- MetaSVM 0.84
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.02
- 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