P270L (p.Pro270Leu) variant of ATRX (Chromatin remodeler ATRX)
P270L (p.Pro270Leu) in ATRX (Chromatin remodeler ATRX) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
P270L (p.Pro270Leu) variant details
- p.Pro270Leu
- rs2148637532
- ClinGen CA413720600
- ClinVar RCV001806377
- Ensembl rs2148637532
- Pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.93
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.11
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)