M4V (p.Met4Val) variant of SOX2 (Transcription factor SOX-2)
M4V (p.Met4Val) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- gnomAD 3-181712370-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- REVEL 0.61
- MetaLR 0.86
- MetaSVM 0.78
- CADD 23.40
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.53
- Literature evidence available