A38T (p.Ala38Thr) variant of BCOR (BCL-6 corepressor)
A38T (p.Ala38Thr) in BCOR (BCL-6 corepressor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Oculofaciocardiodental syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- rs745470688
- ClinGen CA10387093
- NCI-TCGA Cosmic COSV6071
- cosmic curated COSV60715
- Uncertain significance
- Oculofaciocardiodental syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.12
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Oculofaciocardiodental syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00036)
- Structural context available