P12R (p.Pro12Arg) variant of SOX2 (Transcription factor SOX-2)
P12R (p.Pro12Arg) in SOX2 (Transcription factor SOX-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P12R (p.Pro12Arg) variant details
- p.Pro12Arg
- gnomAD rs1386727504
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.76
- MetaLR 0.91
- MetaSVM 0.98
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16