M1761V (p.Met1761Val) variant of ATRX (Chromatin remodeler ATRX)
M1761V (p.Met1761Val) 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 not provided; Intellectual disability-hypotonic facies syndrome, X-linked, 1; Al. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
M1761V (p.Met1761Val) variant details
- p.Met1761Val
- rs2148260943
- ClinGen CA413701186
- ClinVar RCV001843876
- ClinVar RCV003152772
- Likely pathogenic
- not provided; Intellectual disability-hypotonic facies syndrome, X-linked, 1; Al
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.85
- MetaSVM 0.78
- SIFT 0.00
- MutPred 0.78
- ClinVar: Likely pathogenic (not provided; Intellectual disability-hypotonic facies syndrome,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. (PMID 20301622)