K1802T (p.Lys1802Thr) variant of ATRX (Chromatin remodeler ATRX)
K1802T (p.Lys1802Thr) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes published literature and structural context.
K1802T (p.Lys1802Thr) variant details
- p.Lys1802Thr
- rs1602876401
- ClinGen CA413700692
- ClinVar RCV000990874
- Ensembl rs1602876401
- Likely pathogenic
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.30
- MetaSVM -0.58
- SIFT 0.02
- MutPred 0.54
- ClinVar: Likely pathogenic (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)