S2043P (p.Ser2043Pro) variant of ATRX (Chromatin remodeler ATRX)
S2043P (p.Ser2043Pro) 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 Intellectual disability-hypotonic facies syndrome, X-linked, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
S2043P (p.Ser2043Pro) variant details
- p.Ser2043Pro
- rs2148090735
- ClinGen CA413702504
- ClinVar RCV002795908
- Likely pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.69
- MetaSVM 0.47
- SIFT 0.02
- MutPred 0.72
- ClinVar: Likely pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked, 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)