A215T (p.Ala215Thr) variant of ASXL1 (Polycomb group protein ASXL1)
A215T (p.Ala215Thr) in ASXL1 (Polycomb group protein ASXL1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bohring-Opitz syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and published literature.
A215T (p.Ala215Thr) variant details
- p.Ala215Thr
- rs2011469389
- ClinGen CA408553024
- NCI-TCGA Cosmic COSV6010
- cosmic curated COSV60102
- Likely pathogenic
- Bohring-Opitz syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -0.98
- CADD 13.60
- PolyPhen-2 0.03
- SIFT 0.46
- ClinVar: Likely pathogenic (Bohring-Opitz syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Cited in: ASXL1-Related Bohring-Opitz Syndrome. (PMID 29446906)