P1711S (p.Pro1711Ser) variant of ATRX (Chromatin remodeler ATRX)
P1711S (p.Pro1711Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P1711S (p.Pro1711Ser) variant details
- p.Pro1711Ser
- rs122445102
- ClinGen CA121647
- cosmic curated COSV64873
- ClinVar RCV000012498
- Pathogenic
- Intellectual disability-hypotonic facies syndrome, X-linked
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.84
- MetaSVM 0.85
- SIFT 0.01
- MutPred 0.45
- ClinVar: Pathogenic (Intellectual disability-hypotonic facies syndrome, X-linked)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia. (PMID 9043863)