G31V (p.Gly31Val) variant of SOX2 (Transcription factor SOX-2)
G31V (p.Gly31Val) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G31V (p.Gly31Val) variant details
- p.Gly31Val
- ExAC rs768528466
- TOPMed rs768528466
- gnomAD rs768528466
- Uncertain significance
- not provided; Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.54
- MetaLR 0.80
- MetaSVM 0.75
- CADD 24.10
- PolyPhen-2 0.15
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Anophthalmia/microphthalmia-esophageal atresia syn)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.0803