P38L (p.Pro38Leu) variant of SOX2 (Transcription factor SOX-2)
P38L (p.Pro38Leu) in SOX2 (Transcription factor SOX-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Anophthalmia/microphthalmia-esophageal atresia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs2108521561
- ClinGen CA355473149
- ClinVar RCV002042282
- Ensembl rs2108521561
- Uncertain significance
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.42
- MetaLR 0.74
- MetaSVM 0.36
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.32
- ClinVar: Uncertain significance (Anophthalmia/microphthalmia-esophageal atresia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.383
- Cited in: SOX2 Disorder. (PMID 20301477)