K72M (p.Lys72Met) variant of ATRX (Chromatin remodeler ATRX)
K72M (p.Lys72Met) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alpha thalassemia-X-linked intellectual disability syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes published literature and structural context.
K72M (p.Lys72Met) variant details
- p.Lys72Met
- rs2148681433
- ClinGen CA413724285
- ClinVar RCV003860721
- Ensembl rs2148681433
- Uncertain significance
- Alpha thalassemia-X-linked intellectual disability syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 0.00
- AlphaMissense 0.27
- MetaLR 0.95
- MetaSVM 0.89
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Alpha thalassemia-X-linked intellectual disability syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)