M4R (p.Met4Arg) variant of SOX2 (Transcription factor SOX-2)
M4R (p.Met4Arg) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4R (p.Met4Arg) variant details
- p.Met4Arg
- gnomAD 3-181712371-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- REVEL 0.82
- MetaLR 0.87
- MetaSVM 0.76
- CADD 26.40
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.53
- Literature evidence available