A287P (p.Ala287Pro) variant of SOX2 (Transcription factor SOX-2)
A287P (p.Ala287Pro) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A287P (p.Ala287Pro) variant details
- p.Ala287Pro
- rs760688357
- ClinGen CA2717332
- ClinVar RCV001267850
- ExAC rs760688357
- Conflicting interpretations
- not specified; Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- REVEL 0.38
- MetaLR 0.48
- MetaSVM -0.17
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not specified; Anophthalmia/microphthalmia-esophageal atresia sy)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00029)
- Structural context available
- Cited in: SOX2 Disorder. (PMID 20301477)