T7M (p.Thr7Met) variant of SOX2 (Transcription factor SOX-2)
T7M (p.Thr7Met) 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 Inborn genetic diseases; not provided; Congenital aniridia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- rs1714834018
- ClinGen CA355472959
- ClinVar RCV004693593
- ClinVar RCV005420280
- Uncertain significance
- Inborn genetic diseases; not provided; Congenital aniridia
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.65
- MetaLR 0.93
- MetaSVM 1.04
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Congenital aniridia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00021)
- Structural context available
- SOX2 High mobility group box domain domainome 1.0: score -0.16
- Cited in: PAX6 Aniridia Syndrome. (PMID 20301534)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)