M5del (p.Met5del) variant of SOX2 (Transcription factor SOX-2)
M5del (p.Met5del) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M5del (p.Met5del) variant details
- gnomAD 3-181712369-CATG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 22.10
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.663
- Literature evidence available